Retinal disorders
Gene: PYGM
Comment on list classification: As reviewed by Siying Lin, there are four unrelated cases in support of the association of this gene to retinal disorders. Hence, this gene can be rated green in the next major update.Created: 27 Jul 2023, 8:14 p.m. | Last Modified: 27 Jul 2023, 8:14 p.m.
Panel Version: 4.15
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
macular dystrophy, retinal, MONDO:0031166
Publications
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: LiteratureCreated: 24 Jul 2023, 4:43 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Macular dystrophy, retinopathy
Publications
Mode of pathogenicity
Other
Tag Q3_23_promote_green tag was added to gene: PYGM. Tag Q3_23_NHS_review tag was added to gene: PYGM.
Gene: pygm has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: PYGM were changed from Macular dystrophy, retinopathy to macular dystrophy, retinal, MONDO:0031166
Publications for gene: PYGM were set to PMID 30316539
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