Lissencephaly and Band Heterotopia
Gene: CASP2EnsemblGeneIds (GRCh38): ENSG00000106144
EnsemblGeneIds (GRCh37): ENSG00000106144
OMIM: 600639, Gene2Phenotype
CASP2 is in 4 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, MIM# 620653
Chris Ciotta (Victorian Clinical Genetics Services)
7 patients 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: 2 Nov 2023, 1:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neurodevelopmental disorder MONDO:0700092, CASP2-related
Publications
- PMID: 37880421
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, MIM# 620653
- OMIM
- 600639
- Clinvar variants
- Variants in CASP2
- Penetrance
- None
- Publications
-
- PMID: 37880421
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CASP2 were changed from neurodevelopmental disorder MONDO:0700092, CASP2-related to Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, MIM# 620653
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: casp2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: casp2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chris Ciotta (Victorian Clinical Genetics Services)gene: CASP2 was added gene: CASP2 was added to Lissencephaly and Band Heterotopia. Sources: Literature Mode of inheritance for gene: CASP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CASP2 were set to PMID: 37880421 Phenotypes for gene: CASP2 were set to neurodevelopmental disorder MONDO:0700092, CASP2-related Review for gene: CASP2 was set to GREEN gene: CASP2 was marked as current diagnostic