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Mendeliome

Gene: CRMP1

Green List (high evidence)

CRMP1 (collapsin response mediator protein 1)
EnsemblGeneIds (GRCh38): ENSG00000072832
EnsemblGeneIds (GRCh37): ENSG00000072832
OMIM: 602462, Gene2Phenotype
CRMP1 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

All 4 individuals have a neurodevelopmental disorder.
Created: 31 Mar 2025, 1:53 a.m. | Last Modified: 31 Mar 2025, 1:53 a.m.
Panel Version: 1.2396

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder, MONDO:0700092, CRMP2-related

Achchuthan Shanmugasundram (Genomics England)

I don't know

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.

Summary: 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.
Sources: Literature
Created: 25 Mar 2025, 10:47 a.m. | Last Modified: 25 Mar 2025, 10:47 a.m.
Panel Version: 1.2386

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder, MONDO:0700092

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092, CRMP2-related
OMIM
602462
Clinvar variants
Variants in CRMP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Mar 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: crmp1 has been classified as Green List (High Evidence).

31 Mar 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CRMP1 were changed from neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental disorder, MONDO:0700092, CRMP2-related

31 Mar 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: crmp1 has been classified as Green List (High Evidence).

25 Mar 2025, Gel status: 0

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

Achchuthan Shanmugasundram (Genomics England)

gene: CRMP1 was added gene: CRMP1 was added to Mendeliome. 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 Review for gene: CRMP1 was set to AMBER