Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v1.54 | PSAP | Sarah Leigh Phenotypes for gene: PSAP were changed from Krabbe disease, atypical 611722; Combined SAP deficiency 611721; Gaucher disease, atypical 610539; Metachromatic leukodystrophy due to SAP-b deficiency 249900 to Krabbe disease, atypical OMIM:611722; Krabbe disease, atypical, due to saposin A deficiency MONDO:0012720; Combined SAP deficiency OMIM:611721; encephalopathy due to prosaposin deficiency MONDO:0012719; Gaucher disease, atypical OMIM:610539; atypical Gaucher disease due to saposin C deficiency MONDO:0012517; Metachromatic leukodystrophy due to SAP-b deficiency OMIM:249900; metachromatic leukodystrophy due to saposin b deficiency MONDO:0009590 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | PSAP | Emma Ashton reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | PSAP |
Carol Hardy reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined SAP deficiency 611721, Gaucher disease, atypical 610539, Krabbe disease, atypical 611722, Metachromatic leukodystrophy due to SAP-b deficiency 249900 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.2 | PSAP |
Ivone Leong gene: PSAP was added gene: PSAP was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PSAP were set to Krabbe disease, atypical 611722; Combined SAP deficiency 611721; Gaucher disease, atypical 610539; Metachromatic leukodystrophy due to SAP-b deficiency 249900 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||