Retinal disorders
Gene: SAMD7An additional three case were identified in Genomics England's Clinical Variant Archive (CVA) dataset via the Diagnostic Discovery initiative, lending further support to adding this gene to the panel.Created: 2 Apr 2024, 9:43 a.m. | Last Modified: 2 Apr 2024, 9:43 a.m.
Panel Version: 4.81
Comment on list classification: As reviewed by Siying Lin, there are six unrelated families identified with biallelic SAMD7 variants. Of these, patients from four families had macular dystrophy with cone dysfunction, while patients from two other families had macular dystrophy without cone dysfunction. Hence, this gene should be promoted to green rating in the next GMS review.Created: 26 Feb 2024, 5:20 p.m. | Last Modified: 26 Feb 2024, 5:21 p.m.
Panel Version: 4.74
Comment on phenotypes: As the evidence for this gene-disease association has been very recent, biallelic variants in SAMD7 have not yet been associated with retinal phenotypes either in OMIM or in Gene2Phenotype.Created: 26 Feb 2024, 5:15 p.m. | Last Modified: 26 Feb 2024, 5:22 p.m.
Panel Version: 4.74
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
macular dystrophy, retinal, MONDO:0031166; Congenital stationary cone dysfunction, HP:0030637
Publications
5 different variants identified in homozygosity in 6 families from varying ethnicities (Pakistani, African, Yemenite Jewish, Berber/Morocccan) segregating with disease. All affected individuals presented with macular dystrophy, a few had additional cone system involvement. Immunofluorescence studies show SAMD7 localisation to inner and outer nuclear layers of the human retina.
Sources: LiteratureCreated: 21 Feb 2024, 2:07 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Macular dystrophy; cone dystrophy
Publications
Mode of pathogenicity
Other
Tag Q1_24_promote_green tag was added to gene: SAMD7. Tag Q1_24_NHS_review tag was added to gene: SAMD7.
Gene: samd7 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SAMD7 were changed from Macular dystrophy; cone dystrophy to macular dystrophy, retinal, MONDO:0031166; Congenital stationary cone dysfunction, HP:0030637
Publications for gene: SAMD7 were set to PMID: 38272031
gene: SAMD7 was added gene: SAMD7 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: SAMD7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SAMD7 were set to PMID: 38272031 Phenotypes for gene: SAMD7 were set to Macular dystrophy; cone dystrophy Penetrance for gene: SAMD7 were set to unknown Mode of pathogenicity for gene: SAMD7 was set to Other Review for gene: SAMD7 was set to GREEN