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Hereditary neuropathy NOT PMP22 copy number

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 10 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype: leukodystrophy
Created: 6 Dec 2019, 8:01 p.m. | Last Modified: 6 Dec 2019, 8:01 p.m.
Panel Version: 0.54
Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Created: 6 Dec 2019, 8 p.m. | Last Modified: 6 Dec 2019, 8 p.m.
Panel Version: 0.54
Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
Created: 11 Jun 2019, 1:40 p.m.

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • NHS GMS
  • London North GLH
Phenotypes
  • 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
Publications
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

5 Dec 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: FAM126A was added gene: FAM126A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM126A were set to 16951682 Phenotypes for gene: FAM126A were set to Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV; Leukodystrophy, hypomyelinating, 5, 610532