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| Mendeliome v1.4173 | HSPB1 | Zornitza Stark Mode of inheritance for gene: HSPB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4172 | HSPB1 | Zornitza Stark changed review comment from: Multiple families reported, functional data. Different patterns of neuropathy described.; to: Multiple AD families reported, functional data. Different patterns of neuropathy described. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4172 | HSPB1 | Zornitza Stark edited their review of gene: HSPB1: Added comment: PMID 33943041: two unrelated individuals with homozygous missense variants, p.S135F and p.R136L, and CMT. Both variants already reported as pathogenic in the heterozygous state. Third compound het individual reported in 35328016.; Changed publications: 21785432, 15122254, 18832141, 32639100, 32334137, 33943041, 35328016; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3768 | HSPB1 | Lucy Spencer commented on gene: HSPB1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7482 | HSPB1 | Zornitza Stark Marked gene: HSPB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7482 | HSPB1 | Zornitza Stark Gene: hspb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7482 | HSPB1 | Zornitza Stark Phenotypes for gene: HSPB1 were changed from to Charcot Marie Tooth disease, axonal, type 2F, 606595; MONDO:0011687; Neuropathy, distal hereditary motor, type IIB, 608634; MONDO:0012080 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7481 | HSPB1 | Zornitza Stark Publications for gene: HSPB1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7480 | HSPB1 | Zornitza Stark Mode of inheritance for gene: HSPB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7479 | HSPB1 | Zornitza Stark reviewed gene: HSPB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21785432, 15122254, 18832141, 32639100, 32334137; Phenotypes: Charcot Marie Tooth disease, axonal, type 2F, 606595, MONDO:0011687, Neuropathy, distal hereditary motor, type IIB, 608634, MONDO:0012080; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | HSPB1 |
Zornitza Stark gene: HSPB1 was added gene: HSPB1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HSPB1 was set to Unknown |
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