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| Mendeliome v1.3005 | LDHD |
Lucy Spencer gene: LDHD was added gene: LDHD was added to Mendeliome. Sources: Literature Mode of inheritance for gene: LDHD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LDHD were set to 40678184 Phenotypes for gene: LDHD were set to D-lactic aciduria with susceptibility to gout MIM#245450 Review for gene: LDHD was set to GREEN Added comment: 8 patients summarized in PMID: 40678184 with D-Lactate Dehydrogenase Deficiency. 5 homozygous missense, 1 homozygous frameshift, 1 compound heterozygous canonical splice and missense, and 1 homozygous deletion encompassing CTRB2, ZFP1 (neither of which have a disease association) and the first 7 exons of LDHD. Three of these patients had additional variants of interest in other genes that were thought to explain extra phenotypes they had out of the typical spectrum for this disorder. Some patients only have increased plasma urate/gout however 4 also had delayed development, ataxia or epilepsy. 2 of these individuals had other genetic variants that likely explained the neurodevelopmental phenotype (11p deletion syndrome, CACNA1B), and 1 had the deletion that also affected 2 other genes of uncertain significance. So its unclear whether this gene is actually associated with a neurodevelopmental phenotype. Sources: Literature |
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| Mendeliome v0.880 | CACNA1B | Zornitza Stark Marked gene: CACNA1B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.880 | CACNA1B | Zornitza Stark Gene: cacna1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.880 | CACNA1B | Zornitza Stark Phenotypes for gene: CACNA1B were changed from to Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.879 | CACNA1B | Zornitza Stark Publications for gene: CACNA1B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.878 | CACNA1B | Zornitza Stark Mode of inheritance for gene: CACNA1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.877 | CACNA1B | Zornitza Stark reviewed gene: CACNA1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30982612; Phenotypes: Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | CACNA1B |
Zornitza Stark gene: CACNA1B was added gene: CACNA1B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CACNA1B was set to Unknown |
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