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Fetal anomalies

Gene: FAM126A

Green List (high evidence)
FAM126A (family with sequence similarity 126 member A)
EnsemblGeneIds (GRCh38): ENSG00000122591
EnsemblGeneIds (GRCh37): ENSG00000122591
OMIM: 610531, Gene2Phenotype
FAM126A is in 12 panels

1 review

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

Disorder characterised by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency as shown by brain magnetic resonance imaging (MRI). All individuals presented with bilateral cataract at birth or in the first 2 months of life and underwent ocular surgery. Onset in infancy and variable severity

Zara et al. 2006 (PMID#16951682) detected 3 mutations in the DRCTNNB1A gene in 5 families. Two affected a splice site and the third was a missense mutation. Zara concluded that their findings indicated the presence of a molecular link between cerebral and peripheral myelination disorders and congenital cataract.

Ugur and Tolun 2008 (PMID#17928815) identified a homozygous intragenic deletion in the FAM126A gene in affected members of a consanguineous Turkish family with hypomyelinating leukodystrophy and congenital cataracts.
Created: 20 Dec 2021, 3:20 a.m. | Last Modified: 20 Dec 2021, 3:20 a.m.
Panel Version: 0.1469

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 5 MIM#610532

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 20 Dec 2021, 3:20 a.m.
Last Modified: 20 Dec 2021, 3:20 a.m.
Panel version: 0.1469

History Filter Activity

20 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fam126a has been classified as Green List (High Evidence).

20 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FAM126A were changed from LEUKODYSTROPHY HYPOMYELINATING TYPE 5 to Leukodystrophy, hypomyelinating, 5 MIM#610532

20 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FAM126A were set to

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FAM126A was added gene: FAM126A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM126A were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 5