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| Lysosomal storage disorder v1.48 | NAGA | Sarah Leigh Phenotypes for gene: NAGA were changed from Schindler disease, type I 609241; Schindler disease, type III 609241 to Schindler disease, type I OMIM:609241; Schindler disease, type III OMIM:609241; alpha-N-acetylgalactosaminidase deficiency type 1MONDO:0012221; Kanzaki disease OMIM:609242; alpha-N-acetylgalactosaminidase deficiency type 2 MONDO:0012222 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v1.4 | AGA | Sarah Leigh Phenotypes for gene: AGA were changed from Aspartylglucosaminuria 208400 to Aspartylglucosaminuria OMIM:208400; aspartylglucosaminuria MONDO:0008830 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | NAGA | Emma Ashton reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | AGA | Emma Ashton reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | NAGA | Carol Hardy reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Schindler disease, type III 609241, Schindler disease, type I 609241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | AGA | Carol Hardy reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Aspartylglucosaminuria 208400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.2 | NAGA |
Ivone Leong gene: NAGA was added gene: NAGA 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: NAGA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAGA were set to Schindler disease, type I 609241; Schindler disease, type III 609241 |
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| Lysosomal storage disorder v0.2 | AGA |
Ivone Leong gene: AGA was added gene: AGA 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: AGA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGA were set to Aspartylglucosaminuria 208400 |
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