2/1/2021 Segmental overvekst og vaskulærmalformasjoner v02

Avdeling for medisinsk genetikk

Segmental overvekst og vaskulærmalformasjoner

Genpanel, versjon v02

* Enkelte genomiske regioner har lav eller ingen sekvensdekning ved eksomsekvensering. Dette skyldes at de har stor likhet med andre områder i genomet, slik at spesifikk gjenkjennelse av disse områdene og påvisning av varianter i disse områdene, blir vanskelig og upålitelig. Disse genetiske regionene har vi identifisert ved å benytte USCS segmental duplication hvor områder større enn 1 kb og ≥90% likhet med andre regioner i genomet, gjenkjennes (https://genome.ucsc.edu).

Vi gjør oppmerksom på at ved identifiseringav ekson oppstrøms for startkodon kan eksonnummereringen endres uten at transkript ID endres.

Avdelingens websider har en full oversikt over områder som er affisert av segmentale duplikasjoner.

** Transkriptets kodende ekson.

Ekson Gen Gen affisert (HGNC (HGNC Transkript Ekson** Fenotype av symbol) ID) segdup* ACVRL1 175 NM_000020.3 2-10 Telangiectasia, hereditary hemorrhagic, type 2 OMIM

ADAMTS3 219 NM_014243.3 1-22 Hennekam lymphangiectasia- lymphedema syndrome 3 OMIM AKT1 391 NM_005163.2 2-14 Cowden syndrome 6 OMIM Proteus syndrome, somatic OMIM AKT2 392 NM_001626.6 2-14 Diabetes mellitus, type II OMIM Hypoinsulinemic hypoglycemia with hemihypertrophy OMIM AKT3 393 NM_005465.7 2-14 Megalencephaly-polymicrogyria- polydactyly-hydrocephalus syndrome 2 OMIM

file:///data/SegOv_v02-web.html 1/7 2/1/2021 Segmental overvekst og vaskulærmalformasjoner v02 Ekson Gen Gen affisert (HGNC (HGNC Transkript Ekson** Fenotype av symbol) ID) segdup* BRAF 1097 NM_004333.6 18 1-18 Cardiofaciocutaneous syndrome OMIM LEOPARD syndrome 3 OMIM Noonan syndrome 7 OMIM Vascular malformations, mosaic PubMed CCBE1 29426 NM_133459.4 1-11 Hennekam lymphangiectasia- lymphedema syndrome 1 OMIM CCM2 21708 NM_031443.3 1-10 Cerebral cavernous malformations-2 OMIM

CCND2 1583 NM_001759.4 1-5 Megalencephaly-polymicrogyria- polydactyly-hydrocephalus syndrome 3 OMIM DDX24 13266 NM_020414.4 2-9 Multi-organ venous and lyphatic defect syndrome PubMed

ENG 3349 NM_000118.3 1-14 Telangiectasia, hereditary hemorrhagic, type 1 OMIM

EPHB4 3395 NM_004444.5 1-17 Capillary malformation-arteriovenous malformation 2 OMIM Lymphatic malformation 7 OMIM FAT4 23109 NM_024582.4 1-17 Hennekam lymphangiectasia- lymphedema syndrome 2 OMIM Van Maldergem syndrome 2 OMIM FGFR1 3688 NM_023110.3 2-18 Encephalocraniocutaneous lipomatosis OMIM Hartsfield syndrome OMIM Hypogonadotropic hypogonadism 2 with or without anosmia OMIM Jackson-Weiss syndrome OMIM Osteoglophonic dysplasia OMIM Pfeiffer syndrome OMIM Trigonocephaly 1 OMIM

file:///data/SegOv_v02-web.html 2/7 2/1/2021 Segmental overvekst og vaskulærmalformasjoner v02 Ekson Gen Gen affisert (HGNC (HGNC Transkript Ekson** Fenotype av symbol) ID) segdup* FGFR3 3690 NM_000142.4 2-18 Achondroplasia OMIM CATSHL syndrome OMIM Crouzon syndrome with acanthosis nigricans OMIM Hypochondroplasia OMIM LADD syndrome OMIM Muenke syndrome OMIM Nevus, epidermal, somatic OMIM SADDAN OMIM Thanatophoric dysplasia, type I OMIM Thanatophoric dysplasia, type II OMIM FLT4 3767 NM_182925.5 1-30 Hemangioma, capillary infantile, somatic OMIM Lymphedema, hereditary, IA OMIM FOXC2 3801 NM_005251.3 1 Lymphedema-distichiasis syndrome OMIM Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus OMIM GATA2 4171 NM_032638.5 2-6 Emberger syndrome OMIM Immunodeficiency 21 OMIM

GDF2 4217 NM_016204.4 1-2 Telangiectasia, hereditary hemorrhagic, type 5 OMIM

GJC2 17494 NM_020435.4 2 Leukodystrophy, hypomyelinating, 2 OMIM Lymphedema, hereditary, IC OMIM Spastic paraplegia 44, autosomal recessive OMIM GLMN 14373 NM_053274.3 2-19 Glomuvenous malformation OMIM

GNA11 4379 NM_002067.5 1-7 Hypocalcemia, autosomal dominant 2 OMIM Hypocalciuric hypercalcemia, type II OMIM Diffuse capillary malformation and overgrowth PubMed

file:///data/SegOv_v02-web.html 3/7 2/1/2021 Segmental overvekst og vaskulærmalformasjoner v02 Ekson Gen Gen affisert (HGNC (HGNC Transkript Ekson** Fenotype av symbol) ID) segdup* GNAQ 4390 NM_002072.5 7 1-7 Capillary malformations, congenital, 1, somatic, mosaic OMIM Sturge-Weber syndrome, somatic, mosaic OMIM GNAS 4392 NM_000516.6 1-13 ACTH-independent macronodular adrenal hyperplasia OMIM McCune-Albright syndrome, somatic, mosaic OMIM Osseous heteroplasia, progressive OMIM Pituitary adenoma 3, multiple types, somatic OMIM Pseudohypoparathyroidism Ia OMIM Pseudohypoparathyroidism Ib OMIM Pseudohypoparathyroidism Ic OMIM Pseudopseudohypoparathyroidism OMIM HRAS 5173 NM_005343.4 2-5 Congenital myopathy with excess of muscle spindles OMIM Costello syndrome OMIM Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic OMIM {Nevus sebaceous or woolly hair nevus, somatic} OMIM {Spitz nevus or nevus spilus, somatic} OMIM KCNH1 6250 NM_172362.3 1-11 Temple-Baraitser syndrome OMIM Zimmermann-Laband syndrome 1 OMIM KIF11 6388 NM_004523.4 1-22 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation OMIM

file:///data/SegOv_v02-web.html 4/7 2/1/2021 Segmental overvekst og vaskulærmalformasjoner v02 Ekson Gen Gen affisert (HGNC (HGNC Transkript Ekson** Fenotype av symbol) ID) segdup* KRAS 6407 NM_004985.5 5 2-5 Arteriovenous malformation of the brain, somatic OMIM Cardiofaciocutaneous syndrome 2 OMIM Leukemia, acute myeloid OMIM Noonan syndrome 3 OMIM RAS-associated autoimmune leukoproliferative disorder OMIM Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic OMIM KRIT1 1573 NM_194456.1 5-20 Cavernous malformations of CNS and retina OMIM Cerebral cavernous malformations-1 OMIM Hyperkeratotic cutaneous capillary- venous malformations associated with cerebral capillary malformations OMIM MAP2K1 6840 NM_002755.3 1-11 Cardiofaciocutaneous syndrome 3 OMIM Vascular malformations, mosaic PubMed MTOR 3942 NM_004958.4 2-58 Focal cortical dysplasia, type II, somatic OMIM Smith-Kingsmore syndrome OMIM NRAS 7989 NM_002524.5 2-5 ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic OMIM Epidermal nevus, somatic OMIM Melanocytic nevus syndrome, congenital, somatic OMIM Neurocutaneous melanosis, somatic OMIM Noonan syndrome 6 OMIM Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic OMIM PDCD10 8761 NM_145860.1 2-8 Cerebral cavernous malformations 3 OMIM

file:///data/SegOv_v02-web.html 5/7 2/1/2021 Segmental overvekst og vaskulærmalformasjoner v02 Ekson Gen Gen affisert (HGNC (HGNC Transkript Ekson** Fenotype av symbol) ID) segdup* PIEZO1 28993 NM_001142864.4 1-51 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema OMIM Lymphatic malformation 6 OMIM PIK3CA 8975 NM_006218.4 10-14 2-21 CLOVE syndrome, somatic OMIM Cowden syndrome 5 OMIM Keratosis, seborrheic, somatic OMIM Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic OMIM Nevus, epidermal, somatic OMIM PIK3R2 8980 NM_005027.4 2-16 Megalencephaly-polymicrogyria- polydactyly-hydrocephalus syndrome 1 OMIM PTEN 9588 NM_000314.8 9 1-9 Bannayan-Riley-Ruvalcaba syndrome OMIM Cowden syndrome 1 OMIM Lhermitte-Duclos syndrome OMIM Macrocephaly/autism syndrome OMIM PTEN hamartoma tumor syndrome VATER association with macrocephaly and ventriculomegaly OMIM {Meningioma} OMIM PTPN14 9647 NM_005401.5 2-19 ?Choanal atresia and lymphedema OMIM

RASA1 9871 NM_002890.3 1-25 Capillary malformation-arteriovenous malformation OMIM Parkes Weber syndrome OMIM RHOA 667 NM_001664.4 2-5 Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic OMIM Hypomelanosis of ITO PubMed SMAD4 6770 NM_005359.6 2-12 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome OMIM Myhre syndrome OMIM Polyposis, juvenile intestinal OMIM

file:///data/SegOv_v02-web.html 6/7 2/1/2021 Segmental overvekst og vaskulærmalformasjoner v02 Ekson Gen Gen affisert (HGNC (HGNC Transkript Ekson** Fenotype av symbol) ID) segdup* SOX18 11194 NM_018419.3 1-2 Hypotrichosis-lymphedema- telangiectasia syndrome OMIM Hypotrichosis-lymphedema- telangiectasia-renal defect syndrome OMIM TEK 11724 NM_000459.4 1-23 Glaucoma 3, primary congenital, E OMIM Venous malformations, multiple cutaneous and mucosal OMIM TSC1 12362 NM_000368.5 3-23 Focal cortical dysplasia, type II, somatic OMIM Lymphangioleiomyomatosis OMIM Tuberous sclerosis-1 OMIM TSC2 12363 NM_000548.5 2-42 ?Focal cortical dysplasia, type II, somatic OMIM Lymphangioleiomyomatosis, somatic OMIM Tuberous sclerosis-2 OMIM VEGFC 12682 NM_005429.5 1-8 Lymphedema, hereditary, ID OMIM

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