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| DDG2P v3.12 | CLCN4 | Achchuthan Shanmugasundram reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25644381, 27550844, 23647072; Phenotypes: INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CLCN4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CLCN4. Mode of inheritance for gene CLCN4 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females Mode of pathogenicity for gene CLCN4 was changed from Other - please provide details in the comments to Other Publications for gene: CLCN4 were updated from 23647072; 25644381 to 25644381; 27550844; 23647072 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.14 | CLCN4 | Rebecca Foulger Classified gene: CLCN4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.14 | CLCN4 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber to reflect change in DD-G2P Disease confidence for INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY (was 'Possible', now 'Probable'). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.14 | CLCN4 | Rebecca Foulger Gene: clcn4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.13 | CLCN4 | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from monoallelic to hemizygous to match new Allelic requirement in DD-G2P for the disorder INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY. The hemizygous MOI is consistent with CLCN4 on other PanelApp panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.13 | CLCN4 | Rebecca Foulger Mode of inheritance for gene: CLCN4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CLCN4 | Rebecca Foulger reviewed gene: CLCN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CLCN4 |
Rebecca Foulger gene: CLCN4 was added gene: CLCN4 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CLCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CLCN4 were set to 23647072; 25644381 Phenotypes for gene: CLCN4 were set to INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY Mode of pathogenicity for gene: CLCN4 was set to Other - please provide details in the comments |
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