Lissencephaly and Band Heterotopia
Gene: CLASP1EnsemblGeneIds (GRCh38): ENSG00000074054
EnsemblGeneIds (GRCh37): ENSG00000074054
OMIM: 605852, Gene2Phenotype
CLASP1 is in 4 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
3 siblings from a consanguineous family, homozygous for p.(Arg1481His)
at birth, all had low weight and microcephaly (< 3-4SD), profound dev delay, spasticity, seizures and lissencephaly
Arg1481His - 3 hets 0 Homs in v4
codon is highly conserved with a high REVEL score 0.83
Sources: LiteratureCreated: 8 Dec 2024, 9:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neurodevelopmental disorder MONDO:0700092, CLASP1-related
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- neurodevelopmental disorder MONDO:0700092, CLASP1-related
- OMIM
- 605852
- Clinvar variants
- Variants in CLASP1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: clasp1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)gene: CLASP1 was added gene: CLASP1 was added to Lissencephaly and Band Heterotopia. Sources: Literature Mode of inheritance for gene: CLASP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLASP1 were set to 39040917 Phenotypes for gene: CLASP1 were set to neurodevelopmental disorder MONDO:0700092, CLASP1-related Review for gene: CLASP1 was set to RED gene: CLASP1 was marked as current diagnostic