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Table 1 Known disease genes with phenotypic expansion

From: Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

Family

ID

Gene

Variant

Zyg

Clinical features of patients

MIM

Phenotypic expansion

037

BAB6843

MYO5A

NM_000259.3:c.4200C > G:p.Ser1400Arg

Hom

DD, seizures, cerebellar atrophy, nystagmus, dystonia

214450

Lacks classical Griscelli syndrome phenotype of skin hypopigmentation and silver-grey hair

019

BAB6938

ANKRD11

NM_013275.5:c.5317G > T:p.E1773*

Het

DD/ID, hypotonia, esotropia, hyperopia, astigmatism, broad nasal bridge, hypertelorism, epicanthal folds, retrognathia, cryptorchidism

148050

Hypotonia, esotropia, hyperopia, astigmatism

022

BAB6787

KIAA0226

NM_014687.2:c.1642A > G:p.Thr548Ala

Hom

DD/ID, hypotonia, diffuse cortical hypomyelination, contractures of elbows and knees, nystagmus

615705

Hypotonia, contractures, lacks cerebellar atrophy

NM_014687.2:c.319G > A:p.Glu107Lys

Hom

024

BAB6793

C12ORF57

NM_138425.3:c.53-2A > G

Hom

DD/ID, ADHD, bilateral hydronephrosis and VUR, atrophic non-functioning left kidney

218340

Vesicoureteric reflux and bilateral hydronephrosis, small non-functioning left kidney

034

BAB6835

VPS13B

NM_152564.4:c.1219C > T:p.Gln407*

Hom

DD/ID, ADHD, microcephaly, hypotonia, joint hyperlaxity, unsteady gait, severe dental caries

216550

Autistic behavior, unsteady gait, severe dental caries

026

BAB7039

ATP2B3

NM_001001344.2:c.3594G > T:p.Lys1198Asn

Hem

DD/ID, microcephaly, abnormal cortical pattern, hypotonia and muscle atrophy, oropharyngeal dysphagia, dental caries

302500

Microcephaly, abnormal cortical pattern, muscle atrophy, oropharyngeal dysphagia

  1. DD/ID developmental delay/intellectual disability, ADHD attention deficit hyperactivity disorder, VUR Vesicoureteral Reflux, Hom homozygous, Het heterozygous, Hem hemizygous; * stopgain