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  3. FAM126A
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Hereditary neuropathy or pain disorder

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 9 panels

4 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.
Panel Version: 6.148
Numerous FAM126A (HYCC1) variants have been associated with Leukodystrophy, hypomyelinating, 5 (OMIM:610532). FAM126A is a definitive G2P gene for the same condition.
Created: 5 Nov 2024, 3:47 p.m. | Last Modified: 5 Nov 2024, 3:47 p.m.
Panel Version: 6.101

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Nov 2024, 3:47 p.m.
Last Modified: 5 Nov 2024, 3:47 p.m.
Panel version: 6.148

Eleanor Williams (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for FAM126A is HYCC1.
Created: 21 Nov 2022, 3:18 p.m. | Last Modified: 21 Nov 2022, 3:18 p.m.
Panel Version: 1.105
Created: 21 Nov 2022, 3:18 p.m.
Last Modified: 21 Nov 2022, 3:18 p.m.
Panel version: 1.105

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.
Created: 11 Jun 2019, 1:40 p.m.

Panel version: 0.54

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Multiple unrelated patients with peripheralneuropathy. Now that R78 includes complex phneotypes needs to be included
Created: 20 Oct 2024, 9:52 a.m. | Last Modified: 20 Oct 2024, 9:52 a.m.
Panel Version: 5.19

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

Created: 6 Jun 2019, 10:52 a.m.

Panel version: 5.19

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • NHS GMS
  • London North GLH
Phenotypes
  • Leukodystrophy, hypomyelinating, 5, OMIM:610532
  • hypomyelinating leukodystrophy 5, MONDO:0012514
Tags
new-gene-name
OMIM
610531
Clinvar variants
Variants in FAM126A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: FAM126A. Tag Q3_24_NHS_review was removed from gene: FAM126A.

24 Feb 2025, Gel status: 3

Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to FAM126A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

5 Nov 2024, Gel status: 2

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: FAM126A. Tag Q3_24_NHS_review tag was added to gene: FAM126A.

5 Nov 2024, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: FAM126A were set to 16951682; 23998934; 21911699; 33531944; 22749724:

5 Nov 2024, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: FAM126A were set to 16951682

5 Nov 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: FAM126A were changed from Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV; Leukodystrophy, hypomyelinating, 5, 610532 to Leukodystrophy, hypomyelinating, 5, OMIM:610532; hypomyelinating leukodystrophy 5, MONDO:0012514

21 Nov 2022, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag new-gene-name tag was added to gene: FAM126A.

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