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Hereditary Neuropathy - complex

Gene: FAM126A

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Peripheral and central involvement reported.
Created: 24 Jul 2023, 8:06 a.m. | Last Modified: 24 Jul 2023, 8:06 a.m.
Panel Version: 0.173
Created: 24 Jul 2023, 8:06 a.m.
Last Modified: 24 Jul 2023, 8:06 a.m.
Panel version: 0.173

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

Neuropathy not a common feature in individuals with FAM126A variants.
Created: 5 Jul 2023, 6:48 a.m. | Last Modified: 5 Jul 2023, 6:48 a.m.
Panel Version: 0.166

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 5 MIM#610532

Created: 5 Jul 2023, 6:48 a.m.
Last Modified: 5 Jul 2023, 6:48 a.m.
Panel version: 0.166

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • HMSN
  • Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV
  • Leukodystrophy, hypomyelinating, 5, 610532
OMIM
610531
Clinvar variants
Variants in FAM126A
Penetrance
None
Panels with this gene

History Filter Activity

24 Jul 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fam126a has been classified as Amber List (Moderate Evidence).

24 Jul 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fam126a has been classified as Amber List (Moderate Evidence).

24 Jul 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).

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: FAM126A was added gene: FAM126A was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM126A were set to HMSN; Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV; Leukodystrophy, hypomyelinating, 5, 610532