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  3. CLASP1
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Fetal anomalies

Gene: CLASP1

Amber List (moderate evidence)
CLASP1 (cytoplasmic linker associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000074054
EnsemblGeneIds (GRCh37): ENSG00000074054
OMIM: 605852, Gene2Phenotype
CLASP1 is in 1 panel

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Alice Gardham (North West Thames Genetics)

I don't know

3 sibs with promary microcephaly, lissencephaly and CC anomalies. Found in 2 individuals with epilepsy -no other details.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Lissencephaly, HP:0001339; focal epilepsy, MONDO:0005384

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Lissencephaly, HP:0001339
  • focal epilepsy, MONDO:0005384
OMIM
605852
Clinvar variants
Variants in CLASP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ida Ertmanska (Genomics England Curator)

gene: CLASP1 was added gene: CLASP1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: CLASP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CLASP1 were set to 40343077; 39040917 Phenotypes for gene: CLASP1 were set to Lissencephaly, HP:0001339; focal epilepsy, MONDO:0005384