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Retinal disorders v8.97 SAG Eleanor Williams Tag Q3_25_MOI was removed from gene: SAG.
Retinal disorders v8.97 SAG Eleanor Williams commented on gene: SAG
Retinal disorders v8.96 SAG Eleanor Williams Mode of inheritance for gene SAG was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v8.56 MCDR3 Ida Ertmanska changed review comment from: Comment on list classification: While there is emerging evidence linking duplications at the MCDR3 locus and macular dystrophy, PanelApp panels may only include regions curated in ClinGen with sufficient evidence of dosage sensitivity. As this region in not included in ClinGen, we are unable to add it at this time.; to: Comment on list classification: While there is emerging evidence linking duplications at the MCDR3 locus and macular dystrophy, PanelApp panels currently only include regions curated in ClinGen with sufficient evidence of dosage sensitivity. As this region in not included in ClinGen, we are unable to add it at this time.
Retinal disorders v8.56 MCDR3 Ida Ertmanska changed review comment from: While there is emerging evidence linking duplications at the MCDR3 locus and macular dystrophy, PanelApp panels may only include regions curated in ClinGen with sufficient evidence of dosage sensitivity. As this region in not included in ClinGen, we are unable to add it at this time.; to: Comment on list classification: While there is emerging evidence linking duplications at the MCDR3 locus and macular dystrophy, PanelApp panels may only include regions curated in ClinGen with sufficient evidence of dosage sensitivity. As this region in not included in ClinGen, we are unable to add it at this time.
Retinal disorders v8.46 SAG Achchuthan Shanmugasundram changed review comment from: PMID:28549094 (2017) reported the identification of a novel heterozygous variant in the SAG gene (c.440G>T/ p.Cys147Phe) in eight families in a cohort of 300 autosomal dominant retinitis pigmentosa (adRP) families. There were four additional families with adRP were reported in this study with the same heterozygous variant. All 12 families are of Hispanic descent from South Western United States. Haplotype analysis was consistent with a founder mutation event and a distant relationship between all of the families. The mutation dramatically alters a conserved amino acid, is extremely rare in global databases, and was not found in 4000+ exomes from Hispanic controls.

PMID:33047631 (2021) reported the identification of the same variant p.Cys147Phe variant in a 3-generation Australian family segregating with adRP. The mutation was found in the proband, his brother, and the brother's affected son, as well as in the proband's asymptomatic 10-year-old son who had not been examined. The variant was not found in the brother's asymptomatic son, who had a normal retinal examination at age 35 years.

PMID:40461169 (2025) reported the identification of a novel heterozygous SAG variant (c.442G>A/ p.Gly148Arg) in five unrelated families of Southern Chinese descent from Singapore with adRP. A shared haplotype of 3.2 Mb among four families suggested a founder effect.; to: PMID:28549094 (2017) reported the identification of a novel heterozygous variant in the SAG gene (c.440G>T/ p.Cys147Phe) in eight families in a cohort of 300 autosomal dominant retinitis pigmentosa (adRP) families. There were four additional families with adRP were reported in this study with the same heterozygous variant. All 12 families are of Hispanic descent from South Western United States. Haplotype analysis was consistent with a founder mutation event and a distant relationship between all of the families. The mutation dramatically alters a conserved amino acid, is extremely rare in global databases, and was not found in 4000+ exomes from Hispanic controls.

PMID:33047631 (2021) reported the identification of the same variant p.Cys147Phe variant in a 3-generation Australian family segregating with adRP. The mutation was found in the proband, his brother, and the brother's affected son, as well as in the proband's asymptomatic 10-year-old son who had not been examined. The variant was not found in the brother's asymptomatic son, who had a normal retinal examination at age 35 years.

PMID:40461169 (2025) reported the identification of a novel heterozygous SAG variant (c.442G>A/ p.Gly148Arg) in five unrelated families of Southern Chinese descent from Singapore with adRP. A shared haplotype of 3.2 Mb among four families suggested a founder effect.

The 'founder-effect' tag has been added as the two reported heterozygous variants are suggested to be founder variants.
Retinal disorders v8.46 SAG Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence for the association of both monoallelic and biallelic SAG variants with phenotypes relevant to retinal disorders panel. Hence, the MOI should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS update.
Retinal disorders v8.46 SAG Achchuthan Shanmugasundram Mode of inheritance for gene: SAG was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v8.45 SAG Achchuthan Shanmugasundram Tag founder-effect tag was added to gene: SAG.
Tag Q3_25_MOI tag was added to gene: SAG.
Retinal disorders v8.45 SAG Achchuthan Shanmugasundram changed review comment from: Comment on phenotypes: Both monoallelic and biallelic variants in SAG gene are associated with relevant phenotypes in OMIM (OMIM records accessed on 15 October 2025).; to: Comment on phenotypes: Both monoallelic and biallelic variants in SAG gene are associated with relevant phenotypes in OMIM (MIMs #258100, #613758 & #620228). OMIM records were accessed on 15 October 2025.
Retinal disorders v8.45 SAG Achchuthan Shanmugasundram Added comment: Comment on phenotypes: Both monoallelic and biallelic variants in SAG gene are associated with relevant phenotypes in OMIM (OMIM records accessed on 15 October 2025).
Retinal disorders v8.45 SAG Achchuthan Shanmugasundram Phenotypes for gene: SAG were changed from Oguchi disease-1, OMIM:258100; Retinitis pigmentosa 47, autosomal recessive, OMIM:613758; Retinitis pigmentosa 96, autosomal dominant, OMIM:620228 to Oguchi disease-1, OMIM:258100; Retinitis pigmentosa 47, autosomal recessive, OMIM:613758; Retinitis pigmentosa 96, autosomal dominant, OMIM:620228
Retinal disorders v8.44 SAG Achchuthan Shanmugasundram Phenotypes for gene: SAG were changed from Oguchi disease - 1; Retinitis pigmentosa 47; Oguchi Disease; Congenital Stationary Night Blindness; Oguchi disease-1, 258100; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa to Oguchi disease-1, OMIM:258100; Retinitis pigmentosa 47, autosomal recessive, OMIM:613758; Retinitis pigmentosa 96, autosomal dominant, OMIM:620228
Retinal disorders v8.43 SAG Achchuthan Shanmugasundram Publications for gene: SAG were set to 28549094; 33047631
Retinal disorders v8.42 SAG Achchuthan Shanmugasundram edited their review of gene: SAG: Changed phenotypes to: Oguchi disease-1, OMIM:258100, Retinitis pigmentosa 47, autosomal recessive, OMIM:613758, Retinitis pigmentosa 96, autosomal dominant, OMIM:620228
Retinal disorders v8.42 SAG Achchuthan Shanmugasundram reviewed gene: SAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 28549094, 33047631, 40461169; Phenotypes: Retinitis pigmentosa 47, autosomal recessive, OMIM:613758, Retinitis pigmentosa 96, autosomal dominant, OMIM:620228; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v8.4 VSX2 Beisi Xu reviewed gene: VSX2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 36264558, 24001013, 20414678; Phenotypes: NIGHT BLINDNESS, CONGENITAL STATIONARY, pan-bipolar cell dysfunction, LENS SUBLUXATION, Microphthalmia, isolated 2 610093, Microphthalmia/coloboma 3 610092, CATARACTS, IRIS ABNORMALITIES; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v7.23 C19orf44 Sarah Leigh Mode of pathogenicity for gene: C19orf44 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None
Retinal disorders v7.6 SAG Sarah Leigh Publications for gene: SAG were set to
Retinal disorders v7.1 C19orf44 Andrew Webster gene: C19orf44 was added
gene: C19orf44 was added to Retinal disorders. Sources: Research
Mode of inheritance for gene: C19orf44 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C19orf44 were set to retinal dystrophy; macular dystrophy; cone-rod dystrophy; rod-cone dystrophy
Penetrance for gene: C19orf44 were set to unknown
Mode of pathogenicity for gene: C19orf44 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: C19orf44 was set to GREEN
Added comment: Publication accepted by Genetics In Medicine, involving four LOF alleles in 15 affected individuals from 11 families, with four centres contributing (Israel, Boston, Basel, London (UCL/MEH)).

GENETMED-D-24-00741R2
Biallelic null variants in C19orf44 cause a unique late onset retinal dystrophy
phenotype characterized by patchy perifoveal chorioretinal atrophy
Sources: Research
Retinal disorders v7.1 SAG Cassandra Smith reviewed gene: SAG: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28549094, 33047631; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v4.28 MIR204 Sarah Leigh Mode of pathogenicity for gene: MIR204 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Retinal disorders v2.233 ATXN7 Arina Puzriakova Mode of pathogenicity for gene: ATXN7 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Retinal disorders v2.38 GDF6 Mehdi Montazer reviewed gene: GDF6: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: https://doi.org/10.1038/s41431-020-0678-9; Phenotypes: kidney hypodysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Retinal disorders v1.199 KIZ Mohammed Abdallah reviewed gene: KIZ: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID ( 31556760, 29057815, 28837078, 24680887); Phenotypes: Phenotypes (HP:0000556, HP:0000510); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.159 SAG Gavin Arno reviewed gene: SAG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.137 SAG Ivone Leong Source NHS GMS was added to SAG.
Rating Changed from Green List (high evidence) to Green List (high evidence)