| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Lysosomal storage disorder v1.33 | GNPTAB | Sarah Leigh Phenotypes for gene: GNPTAB were changed from Mucolipidosis II alpha/beta OMIM:252500; mucolipidosis type II MONDO:0009650; Mucolipidosis III alpha/beta OMIM:252600; mucolipidosis type IIIMONDO:0018931 to Mucolipidosis II alpha/beta OMIM:252500; mucolipidosis type II MONDO:0009650; Mucolipidosis III alpha/beta OMIM:252600; mucolipidosis type III MONDO:0018931 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v1.32 | GNPTAB | Sarah Leigh Phenotypes for gene: GNPTAB were changed from Mucolipidosis II alpha/beta OMIM:252500; mucolipidosis type II MONDO:0009650 to Mucolipidosis II alpha/beta OMIM:252500; mucolipidosis type II MONDO:0009650; Mucolipidosis III alpha/beta OMIM:252600; mucolipidosis type IIIMONDO:0018931 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v1.31 | GNPTAB | Sarah Leigh Phenotypes for gene: GNPTAB were changed from Mucolipidosis II alpha/beta 252500 to Mucolipidosis II alpha/beta OMIM:252500; mucolipidosis type II MONDO:0009650 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | GNPTAB | Emma Ashton reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | GNPTAB | Carol Hardy reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucolipidosis II alpha/beta 252500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.2 | GNPTAB |
Ivone Leong gene: GNPTAB was added gene: GNPTAB 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: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNPTAB were set to Mucolipidosis II alpha/beta 252500 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||