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| DDG2P v3.12 | NALCN | Achchuthan Shanmugasundram reviewed gene: NALCN: Rating: GREEN; Mode of pathogenicity: ; Publications: 25683120, 24075186, 23749988; Phenotypes: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES, OMIM:615419, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, OMIM:616266; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NALCN | Achchuthan Shanmugasundram Publications for gene: NALCN were updated from 24075186 to 25683120; 24075186; 23749988 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.53 | NALCN | Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as monoallelic for CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; biallelic for HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES; biallelic for SEVERE HYPOTONIA, SPEECH IMPAIRMENT, AND COGNITIVE DELAY. All diseases have a Confirmed Disease Confidence rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.53 | NALCN | Rebecca Foulger Mode of inheritance for gene: NALCN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NALCN | Rebecca Foulger reviewed gene: NALCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NALCN |
Rebecca Foulger Added phenotypes SEVERE HYPOTONIA, SPEECH IMPAIRMENT, AND COGNITIVE DELAY for gene: NALCN Publications for gene NALCN were changed from 23749988 to 24075186 |
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| DDG2P v0.1 | NALCN |
Rebecca Foulger Added phenotypes HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 615419 for gene: NALCN Publications for gene NALCN were changed from 25683120 to 23749988 |
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| DDG2P v0.1 | NALCN |
Rebecca Foulger gene: NALCN was added gene: NALCN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NALCN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NALCN were set to 25683120 Phenotypes for gene: NALCN were set to CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 616266 |
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