| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Paediatric or syndromic cardiomyopathy v0.54 | HGSNAT | Ivone Leong Publications for gene: HGSNAT were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.16 | HGSNAT | Ivone Leong reviewed gene: HGSNAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.15 | HGSNAT |
Ivone Leong Source NHS GMS was added to HGSNAT. Source Expert Review Amber was added to HGSNAT. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.13 | HGSNAT | James Eden changed review comment from: Gene is associated with mucopolysaccharidosis MPS type III-C (Sanfilippo C). Cardiomyopathy has been described on one occasion as a presenting feature (PMID 21048366).; to: Gene is associated with mucopolysaccharidosis MPS type III-C (Sanfilippo C). Cardiomyopathy has been described on one occasion as a presenting feature but in a 39 year old (PMID 21048366). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.13 | HGSNAT | James Eden reviewed gene: HGSNAT: Rating: RED; Mode of pathogenicity: None; Publications: 21048366; Phenotypes: Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930, Retinitis pigmentosa 73, 616544; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.1 | HGSNAT |
Ivone Leong gene: HGSNAT was added gene: HGSNAT was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HGSNAT were set to 27604308 Phenotypes for gene: HGSNAT were set to Mucopolysaccharidosis Type IIIC; MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses); Retinitis Pigmentosa 73; Mucopolysaccharidosis, Type III; Mucopolysaccharidosis Type III; Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||