Malformations of cortical development
Gene: CASP2EnsemblGeneIds (GRCh38): ENSG00000106144
EnsemblGeneIds (GRCh37): ENSG00000106144
OMIM: 600639, Gene2Phenotype
CASP2 is in 4 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 2 May 2024, 11:02 a.m. | Last Modified: 2 May 2024, 11:02 a.m.
Panel Version: 5.2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence available (three unrelated families) for the association of biallelic CASP2 variants with lissencephaly. Hence, this gene can be promoted to green rating in the next GMS update.Created: 28 Nov 2023, 1:57 p.m. | Last Modified: 28 Nov 2023, 1:57 p.m.
Panel Version: 4.12
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neurodevelopmental disorder, MONDO:0700092; hereditary cerebral malformation, MONDO:0957008
Publications
Zornitza Stark (Australian Genomics)
7 individuals from 5 families:
- 4 families homozygous for PTC.
- 1 family compound heterozygote for splice site + PTC. RNA studies indicate usage of 2 cryptic splice donor sites.
5/5 have ID/dev delay
1/5 seizures
2/5 hypotonia
3/5 Lissencephaly (pachygyria + cortical thickening)
Sources: LiteratureCreated: 3 Nov 2023, 6:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neurodevelopmental disorder MONDO:0700092, CASP2-related
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CASP2 were changed from neurodevelopmental disorder, MONDO:0700092; hereditary cerebral malformation, MONDO:0957008 to Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, OMIM:620653
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_23_promote_green was removed from gene: CASP2.
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source NHS GMS was added to CASP2. Source Expert Review Green was added to CASP2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: casp2 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: CASP2 were changed from neurodevelopmental disorder MONDO:0700092, CASP2-related to neurodevelopmental disorder, MONDO:0700092; hereditary cerebral malformation, MONDO:0957008
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_23_promote_green tag was added to gene: CASP2.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: CASP2 was added gene: CASP2 was added to Malformations of cortical development. Sources: Literature Mode of inheritance for gene: CASP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CASP2 were set to 37880421 Phenotypes for gene: CASP2 were set to neurodevelopmental disorder MONDO:0700092, CASP2-related Review for gene: CASP2 was set to GREEN