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Intellectual disability

Gene: CAPN15

Amber List (moderate evidence)

CAPN15 (calpain 15)
EnsemblGeneIds (GRCh38): ENSG00000103326
EnsemblGeneIds (GRCh37): ENSG00000103326
OMIM: 603267, Gene2Phenotype
CAPN15 is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. Sufficient number of cases presenting with DD/ID (5/7 individuals from 3 unrelated families - PMIDs: 33410501; 32885237) to warrant a Green rating on this panel.
Created: 10 Jun 2021, 3:43 p.m. | Last Modified: 10 Jun 2021, 3:43 p.m.
Panel Version: 3.1120

Zornitza Stark (Australian Genomics)

Green List (high evidence)

5 families reported, including DD/ID in 3. Profound in one family with bi-allelic LoF variant, PMID 33410501.
Sources: Literature
Created: 10 May 2021, 10:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318
Tags
Q2_21_rating
OMIM
603267
Clinvar variants
Variants in CAPN15
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: capn15 has been classified as Amber List (Moderate Evidence).

10 Jun 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: CAPN15.

10 Jun 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CAPN15 were changed from Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318 to Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318

10 May 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: CAPN15 was added gene: CAPN15 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: CAPN15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAPN15 were set to 33410501; 32885237 Phenotypes for gene: CAPN15 were set to Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318 Review for gene: CAPN15 was set to GREEN gene: CAPN15 was marked as current diagnostic