1. Panels
  2. Intellectual disability
  3. CRMP1
Genes in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability

Gene: CRMP1

Amber List (moderate evidence)
CRMP1 (collapsin response mediator protein 1)
EnsemblGeneIds (GRCh38): ENSG00000072832
EnsemblGeneIds (GRCh37): ENSG00000072832
OMIM: 602462, Gene2Phenotype
CRMP1 is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

Comment on list classification: There are three unrelated cases reported with moderate intellectual disability and with monoallelic CRMP1 variants. However, one patient with a different monoallelic CRMP1 variant had normal IQ. Hence, this gene should be rated amber with current evidence.

The 'watchlist' tag has been added to review this gene in light of any new evidence in the future.
Created: 25 Mar 2025, 10:45 a.m. | Last Modified: 25 Mar 2025, 10:45 a.m.
Panel Version: 8.193
Comment on publications: PMID:39758889 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Created: 25 Mar 2025, 10:42 a.m. | Last Modified: 25 Mar 2025, 10:42 a.m.
Panel Version: 8.192
PMID:36511780 reported the identification of three different heterozygous de novo variants in the CRMP1 gene (p.(Pro589Leu), p.(Thr427Met) & p.(Phe351Ser)) in three unrelated individuals with a neurodevelopmental disorder presenting with muscular hypotonia, intellectual disability, and/or autism spectrum disorder. ID was moderate in two of them, while IQ was normal in one. There is also functional evidence available for these variants.

PMID:39758889 reported the identification of a novel heterozygous de novo frameshift variant in CRMP1 (p.(Lys586fs)) in a 9-year-old male patient presenting with phenotypes such as autism, language delay, hyperactivity, and learning disabilities. This patient was reported with moderate ID.
Sources: Literature
Created: 25 Mar 2025, 10:41 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071

Publications

Created: 25 Mar 2025, 10:41 a.m.

Panel version: 8.191

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • intellectual disability, MONDO:0001071
Tags
watchlist
OMIM
602462
Clinvar variants
Variants in CRMP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Mar 2025, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: crmp1 has been classified as Amber List (Moderate Evidence).

25 Mar 2025, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist tag was added to gene: CRMP1.

25 Mar 2025, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: CRMP1 were set to 36511780; 39758889

25 Mar 2025, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CRMP1 was added gene: CRMP1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: CRMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CRMP1 were set to 36511780; 39758889 Phenotypes for gene: CRMP1 were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 Review for gene: CRMP1 was set to AMBER