Microcephaly
Gene: NALCNEnsemblGeneIds (GRCh38): ENSG00000102452
EnsemblGeneIds (GRCh37): ENSG00000102452
OMIM: 611549, Gene2Phenotype
NALCN is in 10 panels
1 review
Krithika Murali (Victorian Clinical Genetics Services)
Monoallelic NALCN missense variants reported in individuals with congenital contractures of the limbs and face, hypotonia, and developmental delay.
Biallelic NALCN variants cause severe infantile hypotonia with psychomotor retardation and characteristic facial features. Microcephaly a reported feature. PMID: 30167850 report new cases with balletic variants and review previously published cases noting microcephaly in 14/21 individuals.
Sources: LiteratureCreated: 7 Mar 2022, 11:27 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Congenital contractures of the limbs and face, hypotonia, and developmental delay - MIM#616266; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 - MIM#615419
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Congenital contractures of the limbs and face, hypotonia, and developmental delay - MIM#616266
- Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 - MIM#615419
- 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 Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nalcn has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Krithika Murali (Victorian Clinical Genetics Services)gene: NALCN was added gene: NALCN was added to Microcephaly. Sources: Literature Mode of inheritance for gene: NALCN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NALCN were set to 25683120; 23749988; 24075186; 30167850 Phenotypes for gene: NALCN were set to Congenital contractures of the limbs and face, hypotonia, and developmental delay - MIM#616266; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 - MIM#615419 Review for gene: NALCN was set to GREEN