1. Panels
  2. Cerebral Palsy
  3. FAM126A
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Cerebral Palsy

Gene: FAM126A

Red List (low 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

Luisa Weiss (University of Adelaide)

I don't know

One large CP cohort study with one patient with a homozygous HYCC1/FAM126A mutation and CP
Sources: Literature
Created: 29 May 2023, 2:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating MIM#610532

Publications

Created: 29 May 2023, 2:36 a.m.

Panel version: 1.36

History Filter Activity

30 May 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fam126a has been classified as Red List (Low Evidence).

30 May 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fam126a has been classified as Red List (Low Evidence).

29 May 2023, Gel status: 0

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

Luisa Weiss (University of Adelaide)

gene: FAM126A was added gene: FAM126A was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM126A were set to 34788679 Phenotypes for gene: FAM126A were set to Leukodystrophy, hypomyelinating MIM#610532 Review for gene: FAM126A was set to AMBER