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Retinal disorders

Gene: FAM57B

Red List (low evidence)

FAM57B (family with sequence similarity 57 member B)
EnsemblGeneIds (GRCh38): ENSG00000149926
EnsemblGeneIds (GRCh37): ENSG00000149926
OMIM: 615175, Gene2Phenotype
FAM57B is in 1 panel

2 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Red List (low evidence)

In Carss et al 2017 as one of the biallelic LOF genes - not really enough to include
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Added new-gene-name tag, new approved HGNC gene symbol for FAM57B is TLCD3B
Created: 7 May 2019, 1:52 p.m.
Candidate IRD-associated gene from publication PMID:28041643. Gene containing _2 predicted protein-truncating alleles (High impact), including SVs that are likely to be biallelic. Genomic coordinates refer to genome build GRCh37.
Created: 17 Jan 2017, 5:13 p.m.

Phenotypes
Cone-rod dystrophy

Publications

Details

Sources
  • NHS GMS
  • Literature
Phenotypes
  • Cone-rod dystrophy
Tags
new-gene-name
OMIM
615175
Clinvar variants
Variants in FAM57B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

7 May 2019, Gel status: 1

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: FAM57B.

3 Apr 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to FAM57B.

17 Jan 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

FAM57B was added to Posterior segment abnormalitiespanel. Sources: Literature

17 Jan 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

FAM57B was created by LouiseD