1. Genes and Genomic Entities
  2. CASP2

CASP2

caspase 2
OMIM: 600639, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green CASP2 in Malformations of cortical development


Level 2: Neurology
Version 8.3
Latest signed off version: v8.0 (6 May 2026)

Component of the following Super Panels:

  • Cerebral malformation
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, OMIM:620653
    Green CASP2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.10
    Latest signed off version: v7.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, OMIM:620653
    Green CASP2 in DDG2P


    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, OMIM:620653
    Green CASP2 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.17
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, OMIM:620653