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| Fetal anomalies v8.7 | CLCN3 | Ida Ertmanska changed review comment from: Comment on mode of inheritance: There is currently only 1 recessive pedigree reported in literature where 2 sibs with a neurodevelopmental disorder with seizures and brain abnormalities harboured a homozygous frameshift CLCN3 variant. More than 20 individuals have been reported with an NDD and harbouring heterozygous missense variants in CLCN3. Hence, the mode of inheritance should be changed to MONOALLELIC only, until more evidence emerges for the BIALLELIC association.; to: Comment on mode of inheritance: There is currently only 1 recessive pedigree reported in literature where 2 sibs with a neurodevelopmental disorder with seizures and brain abnormalities harboured a homozygous frameshift CLCN3 variant. More than 20 individuals have been reported with an NDD and harbouring heterozygous missense variants in CLCN3. Hence, the mode of inheritance should be changed to MONOALLELIC only, until more evidence emerges for the BIALLELIC association. An expert_review tag was added to ensure GMS is in agreement on this demotion. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.7 | CLCN3 |
Ida Ertmanska Tag Q3_26_expert_review tag was added to gene: CLCN3. Tag Q3_26_MOI tag was added to gene: CLCN3. |
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| Fetal anomalies v8.7 | CLCN3 | Ida Ertmanska reviewed gene: CLCN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34186028; Phenotypes: ?Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517, Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.152 | CLCN3 | Arina Puzriakova Added phenotypes Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512; Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517 for gene: CLCN3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.150 | CLCN3 | Arina Puzriakova edited their review of gene: CLCN3: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.149 | CLCN3 | Arina Puzriakova commented on gene: CLCN3: The rating of this gene has been updated to Green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.148 | CLCN3 | Arina Puzriakova commented on gene: CLCN3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.147 | CLCN3 | Elizabeth Scotchman reviewed gene: CLCN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 36536096, 34186028; Phenotypes: Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517, Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.143 | CLCN3 |
Arina Puzriakova gene: CLCN3 was added gene: CLCN3 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: CLCN3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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