NALCN

sodium leak channel, non-selective
OMIM: 611549
PanelMode of inheritanceDetails
4 panels
R-numbers: R83
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital contractures of the limbs and face, hypotonia, and developmental delay 616266
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 615419, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 616266, SEVERE HYPOTONIA, SPEECH IMPAIRMENT, AND COGNITIVE DELAY
R-numbers: R21
Signed-off version 1.92
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Neuroaxonal neurodegeneration, infantile, with facial dysmophism, 615419, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY