| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Retinal disorders v4.12 | PYGM |
Siying Lin gene: PYGM was added gene: PYGM was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYGM were set to PMID 30316539 Phenotypes for gene: PYGM were set to Macular dystrophy, retinopathy Mode of pathogenicity for gene: PYGM was set to Other Review for gene: PYGM was set to GREEN Added comment: Mahroo et al (PMID 30316539) report on 4 individuals with McArdle disease and biallelic variants in PYGM and similar retinopathy affecting the macula. Screening results for mutations in a number of macular dystrophy genes were negative, supporting the association of this retinopathy with McArdle disease Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.273 | AHR | Eleanor Williams Publications for gene: AHR were set to 29726989; 31896775 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.272 | AHR | Eleanor Williams commented on gene: AHR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.242 | AHR | Mohammed Derar reviewed gene: AHR: Rating: GREEN; Mode of pathogenicity: None; Publications: Zhou et al. (2018) (PMID: 29726989), Mayer et al. (2019) (PMID: 31009037); Phenotypes: Retinitis pigmentosa, Foveal hypoplasia, infantile nystagmus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.30 | AHR | Ivone Leong commented on gene: AHR: This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is currently not enough evidence to support a gene-disease association so this gene will remain Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.30 | AHR | Ivone Leong Tag watchlist tag was added to gene: AHR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.30 | AHR | Ivone Leong Publications for gene: AHR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.29 | AHR | Ivone Leong Phenotypes for gene: AHR were changed from ?Retinitis pigmentosa 85, OMIM:618345 to ?Retinitis pigmentosa 85, OMIM:618345; Retinal dystrophy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.28 | AHR | Ivone Leong Phenotypes for gene: AHR were changed from to ?Retinitis pigmentosa 85, OMIM:618345 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.27 | AHR | Ivone Leong Mode of inheritance for gene: AHR was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.16 | AHR | Zornitza Stark reviewed gene: AHR: Rating: AMBER; Mode of pathogenicity: None; Publications: 29726989, 31896775; Phenotypes: Retinal dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | AHR | Ivone Leong reviewed gene: AHR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.3 | AHR |
Ivone Leong gene: AHR was added gene: AHR was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: AHR was set to |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v1.137 | SRD5A3 |
Ivone Leong gene: SRD5A3 was added gene: SRD5A3 was added to Retinal disorders. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SRD5A3 were set to 28253385; 30019980; 24433453 Phenotypes for gene: SRD5A3 were set to Congenital disorder of glycosylation, type Iq, 612379; Kahrizi syndrome, 612713 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||