Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: CAPN10

Red List (low evidence)

CAPN10 (calpain 10)
EnsemblGeneIds (GRCh38): ENSG00000142330
EnsemblGeneIds (GRCh37): ENSG00000142330
OMIM: 605286, Gene2Phenotype
CAPN10 is in 2 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible.
Created: 19 Nov 2018, 11:29 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
OMIM
605286
Clinvar variants
Variants in CAPN10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: CAPN10 was added gene: CAPN10 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CAPN10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAPN10 were set to 21937992 Phenotypes for gene: CAPN10 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION