Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: CLCC1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa 32, MIM# 609913
Publications
A presumptive Pakastani founder mutation (c.75C>A, p.D25E) was identified in 8 consanguineous arRP families. A knockout zebrafish model and a Clcc1 +/- mouse model had a supporting retinal phenotype.Created: 21 May 2020, 5:37 a.m. | Last Modified: 21 May 2020, 5:37 a.m.
Panel Version: 0.23
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
retinitis pigmentosa
Publications
Phenotypes for gene: CLCC1 were changed from Retinitis pigmentosa 32 to Retinitis pigmentosa 32, MIM# 609913
Gene: clcc1 has been classified as Amber List (Moderate Evidence).
Gene: clcc1 has been classified as Amber List (Moderate Evidence).
gene: CLCC1 was added gene: CLCC1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CLCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLCC1 were set to 30157172 Phenotypes for gene: CLCC1 were set to Retinitis pigmentosa 32