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Intellectual disability syndromic and non-syndromic

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Mild-to-moderate intellectual disability is a feature of the condition.
Created: 27 Sep 2024, 7:10 a.m. | Last Modified: 27 Sep 2024, 7:10 a.m.
Panel Version: 0.6252

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hypomyelinating leukodystrophy 5 MONDO:0012514

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • hypomyelinating leukodystrophy 5 MONDO:0012514
OMIM
610531
Clinvar variants
Variants in FAM126A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

27 Sep 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: FAM126A were changed from to hypomyelinating leukodystrophy 5 MONDO:0012514

27 Sep 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: FAM126A were set to

27 Sep 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: FAM126A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FAM126A was added gene: FAM126A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FAM126A was set to Unknown