Cerebral Palsy
Gene: NALCNEnsemblGeneIds (GRCh38): ENSG00000102452
EnsemblGeneIds (GRCh37): ENSG00000102452
OMIM: 611549, Gene2Phenotype
NALCN is in 10 panels
1 review
Clare van Eyk (University of Adelaide)
1 additional individual with mono-allelic LP splice variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.Created: 27 May 2024, 11:42 a.m. | Last Modified: 27 May 2024, 11:42 a.m.
Panel Version: 1.194
One case with pathogenic variant from clinical laboratory referral cohort. One additional VUS from tertiary care setting. NALCN variants cause a congenital disorder with contractures of the limbs, abnormal facial features, hypotonia, and developmental delay (OMIM: 611549). Cerebral palsy has not been described previously.
Sources: LiteratureCreated: 20 Sep 2021, 12:01 p.m. | Last Modified: 20 Sep 2021, 12:01 p.m.
Panel Version: 0.99
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital contractures of the limbs and face, hypotonia, and developmental delay (OMIM 616266)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Cerebral palsy
- Congenital contractures of the limbs and face, hypotonia, and developmental delay (OMIM 616266)
- OMIM
- 611549
- Clinvar variants
- Variants in NALCN
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nalcn has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NALCN were changed from Cerebral palsy to Cerebral palsy; Congenital contractures of the limbs and face, hypotonia, and developmental delay (OMIM 616266)
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nalcn has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: NALCN was added gene: NALCN was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: NALCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NALCN were set to PMID:33528536; 34364746 Phenotypes for gene: NALCN were set to Cerebral palsy Review for gene: NALCN was set to AMBER