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| Malformations of cortical development v5.4 | CASP2 | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v5.3 | CASP2 | Arina Puzriakova Tag Q4_23_promote_green was removed from gene: CASP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v5.3 | CASP2 |
Arina Puzriakova 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) |
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| Malformations of cortical development v5.2 | CASP2 | Arina Puzriakova reviewed gene: CASP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v4.12 | CASP2 | Achchuthan Shanmugasundram Classified gene: CASP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v4.12 | CASP2 | Achchuthan Shanmugasundram Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v4.12 | CASP2 | Achchuthan Shanmugasundram Gene: casp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v4.11 | CASP2 | Achchuthan Shanmugasundram Phenotypes for gene: CASP2 were changed from neurodevelopmental disorder MONDO:0700092, CASP2-related to neurodevelopmental disorder, MONDO:0700092; hereditary cerebral malformation, MONDO:0957008 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v4.10 | CASP2 | Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CASP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v4.10 | CASP2 | Achchuthan Shanmugasundram reviewed gene: CASP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37880421; Phenotypes: neurodevelopmental disorder, MONDO:0700092, hereditary cerebral malformation, MONDO:0957008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v4.10 | CASP2 |
Zornitza Stark 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 Added comment: 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: Literature |
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