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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 5 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in NALCN from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
Created: 18 Apr 2019, 3:51 p.m.
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, Confirmed for HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES, and Confirmed for SEVERE HYPOTONIA, SPEECH IMPAIRMENT, AND COGNITIVE DELAY.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as LOF for HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES and SEVERE HYPOTONIA, SPEECH IMPAIRMENT, AND COGNITIVE DELAY, and listed as All missense/in frame for CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY.
Created: 8 Nov 2018, 4:45 p.m.

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SEVERE HYPOTONIA, SPEECH IMPAIRMENT, AND COGNITIVE DELAY
  • HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES
  • CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
OMIM
611549
Clinvar variants
Variants in NALCN
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes SEVERE HYPOTONIA, SPEECH IMPAIRMENT, AND COGNITIVE DELAY for gene: NALCN

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES for gene: NALCN

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: NALCN was added gene: NALCN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NALCN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: NALCN were set to CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY