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  3. NALCN
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Fetal anomalies

Gene: NALCN

Green List (high evidence)
NALCN (sodium leak channel, non-selective)
EnsemblGeneIds (GRCh38): ENSG00000102452
EnsemblGeneIds (GRCh37): ENSG00000102452
OMIM: 611549, Gene2Phenotype
NALCN is in 10 panels

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

Monoallelic NALCN missense variants reported in individuals with congenital contractures of the limbs and face, hypotonia, and developmental delay. Common features include clubfoot and camptodactyly of the digits of the hands and ulnar deviation of the wrist.

Biallelic NALCN variants cause severe infantile hypotonia with psychomotor retardation and characteristic facial features. Microcephaly a reported feature.
Created: 5 Dec 2021, 11:39 p.m. | Last Modified: 5 Dec 2021, 11:39 p.m.
Panel Version: 0.957

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

Created: 5 Dec 2021, 11:39 p.m.
Last Modified: 5 Dec 2021, 11:39 p.m.
Panel version: 0.957

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
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

6 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

6 Dec 2021, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: NALCN were changed from HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES; CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; SEVERE HYPOTONIA, SPEECH IMPAIRMENT, AND COGNITIVE DELAY 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)

6 Dec 2021, Gel status: 3

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: NALCN were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NALCN was added gene: NALCN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: NALCN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: NALCN were set to HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES; CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; SEVERE HYPOTONIA, SPEECH IMPAIRMENT, AND COGNITIVE DELAY