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Limb disorders

Gene: C8orf37

Red List (low evidence)

C8orf37 (chromosome 8 open reading frame 37)
EnsemblGeneIds (GRCh38): ENSG00000156172
EnsemblGeneIds (GRCh37): ENSG00000156172
OMIM: 614477, Gene2Phenotype
C8orf37 is in 13 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for C8orf37 is CFAP418
Created: 10 May 2022, 3:03 p.m. | Last Modified: 10 May 2022, 3:03 p.m.
Panel Version: 3.1

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

Adding gene as red as it is red on the GMS Bardet Biedl syndrome panel (v1.0).
2 cases reported.
Sources: Expert list
Created: 25 Nov 2019, 10:23 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Bardet-Biedl syndrome 21, 617406


History Filter Activity

10 May 2022, Gel status: 1

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag new-gene-name tag was added to gene: C8orf37.

25 Nov 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: C8orf37 was added gene: C8orf37 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C8orf37 were set to 27008867; 26854863 Phenotypes for gene: C8orf37 were set to Bardet-Biedl syndrome 21, 617406 Review for gene: C8orf37 was set to RED