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Table 1 OMIM Morbid annotated genes with gene coordinates, mode of inheritance (AD: autosomal dominant) and associated clinical phenotypes for arr[GRch37] 22q13.2q13.31(43682699_46704243) × 3

From: Molecular cytogenetic and phenotypic characterization of Phelan McDermid and 22q13 duplication syndrome: a case report

Gene

Disease, # OMIM entry

Gene coordinate Chr 22 (GRCh38)

Mode of inheritance

Phenotype features

FBLN1

Fibulin 1

Synpolydactyly-2 (SPD2)

#608,180

45,502,883–45,601,135

AD

Hand syndactyly/synpolydactyly (3rd or 4th digits), feet Syndactyly (2nd, 3rd, 4th digits), hand and feet metatarsal synostosis (3rd and 4th digits), hand and feet Symmetric, bilateral malformations

ATXN10

Ataxin 10

Spinocerebellar ataxia-10 (SCA10)

#603,516

45,671,834–45,845,307

AD repeat expansion (ATTCT)n

Progressive cerebellar ataxia and atrophy, scanning speech, seizures, hyperreflexia, cognitive impairment, dementia, nystagmus, dysphagia, urinary incontinence, age at onset 14 to 44 years

PPARA

Peroxisome proliferator-activated receptor-alpha

Susceptibility to hyper-apobetalipoproteinemia

46,150,526–46,243,756

-

Physiological function during various nutritional states, possible role in several chronic diseases (PMID: 10,839,530)