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Intellectual disability syndromic and non-syndromic

Gene: CLASP1

Red List (low evidence)

CLASP1 (cytoplasmic linker associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000074054
EnsemblGeneIds (GRCh37): ENSG00000074054
OMIM: 605852, Gene2Phenotype
CLASP1 is in 4 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

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: Literature
Created: 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

8 Dec 2024, Gel status: 1

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: clasp1 has been classified as Red List (Low Evidence).

8 Dec 2024, Gel status: 1

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 Intellectual disability syndromic and non-syndromic. 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