Cataract
Gene: PGRMC1EnsemblGeneIds (GRCh38): ENSG00000101856
EnsemblGeneIds (GRCh37): ENSG00000101856
OMIM: 300435, Gene2Phenotype
PGRMC1 is in 3 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
A single large family with X-linked isolated paediatric cataract in males segregating a large 127 kb deletion truncating PGRMC1. A supporting knockout zebrafish model with cataract. Also, two unrelated male probands with non-syndromic ID and cataract with a large deletion encompassing PGRMC1 and SLC25A5.
Sources: LiteratureCreated: 17 Aug 2021, 6:46 a.m. | Last Modified: 17 Aug 2021, 6:47 a.m.
Panel Version: 0.286
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Isolated paediatric cataract
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Isolated paediatric cataract
- Tags
- OMIM
- 300435
- Clinvar variants
- Variants in PGRMC1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pgrmc1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pgrmc1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PGRMC1 was added gene: PGRMC1 was added to Cataract. Sources: Literature SV/CNV tags were added to gene: PGRMC1. Mode of inheritance for gene: PGRMC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PGRMC1 were set to 33867527; 23783460 Phenotypes for gene: PGRMC1 were set to Isolated paediatric cataract Review for gene: PGRMC1 was set to AMBER