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DDG2P

Gene: CASP2

Green List (high evidence)
CASP2 (caspase 2)
EnsemblGeneIds (GRCh38): ENSG00000106144
EnsemblGeneIds (GRCh37): ENSG00000106144
OMIM: 600639, Gene2Phenotype
CASP2 is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease CASP2-related developmental disorder with lissencephaly is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 37880421;21937992).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10
The DDG2P confidence category for the disease AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:21937992).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CASP2-related developmental disorder with lissencephaly; AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 4.10

Rebecca Foulger (Genomics England curator)

I don't know

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

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, OMIM:620653
OMIM
600639
Clinvar variants
Variants in CASP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to CASP2. Rating Changed from Red List (low evidence) to Green List (high evidence)

2 May 2024, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CASP2 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, OMIM:620653

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: CASP2 was added gene: CASP2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CASP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CASP2 were set to 21937992 Phenotypes for gene: CASP2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION