Retinal disorders

Gene: C21orf2

Green List (high evidence)

Added new-gene-name tag, new approved HGNC gene symbol is CFAP410

Created: 31 Jul 2018, 3:29 p.m.

Comment on mode of inheritance: Biallelic mode of inheritance supported by OMIM.

Created: 3 Oct 2017, 11:30 a.m.

Comment on list classification: Updated rating from Red to Green after advice from Chris Campbell and OMIM disease:gene update since the previous Simon Ramsden (Amber) review: Sufficient cases in PMID:23105016, 26294103 and 27548899 to support causation for eye phenotype relevant to this panel.

Created: 21 Sep 2017, 8:30 a.m.

Abu-Safieh 2013 (PMID:23105016) report a C21orf2 splice site variant in 1 patient with retinal dystrophy.
Khan 2015 (PMID:26294103) report 3 females from unrelated consanguineous Saudi families with retinal dystrophy and C21ORF2 homozygous variants (2 separate variants identified).
Suga 2016 (PMID:27548899) report Japanese siblings with a missense mutation in C21ORF2: Y107C.

Created: 21 Sep 2017, 8:27 a.m.

Comment on phenotypes: Added in MIM:617547 based on new OMIM gene-disease relationship from June 2017.

Created: 29 Aug 2017, 10:56 a.m.

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.

Created: 2 Jun 2016, 8:06 a.m.

I don't know

Cone rod dystrophy. Rare novel homozygous frameshift mutation found in isolated Saudi CORD patient and novel homozygous splice site mutation in second isolated Saudi CORD patient. However these have never been replicated and pathogenicity never established unequivocally. In my opinion there is insufficient evidence

Created: 1 Jun 2016, 9:52 a.m.

Mode of inheritance
Unknown

Publications

• PMID: 23105016

Variants in this GENE are reported as part of current diagnostic practice