Retinal disorders
Gene: SAMD7EnsemblGeneIds (GRCh38): ENSG00000187033
EnsemblGeneIds (GRCh37): ENSG00000187033
SAMD7 is in 1 panel
4 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 26 Sep 2024, 3:50 p.m. | Last Modified: 26 Sep 2024, 3:50 p.m.
Panel Version: 6.7
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Arina Puzriakova (Genomics England Curator)
An 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
Achchuthan Shanmugasundram (Genomics England Curator)
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
Siying Lin (Moorfields Eye Hospital)
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
- PMID: 38272031
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Macular dystrophy with or without cone dysfunction, OMIM:620762
- Tags
- Clinvar variants
- Variants in SAMD7
- Penetrance
- unknown
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag gene-checked tag was added to gene: SAMD7.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SAMD7 were changed from macular dystrophy, retinal, MONDO:0031166; Congenital stationary cone dysfunction, HP:0030637 to Macular dystrophy with or without cone dysfunction, OMIM:620762
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q1_24_promote_green was removed from gene: SAMD7. Tag Q1_24_NHS_review was removed from gene: SAMD7.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to SAMD7. Source Expert Review Green was added to SAMD7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q1_24_promote_green tag was added to gene: SAMD7. Tag Q1_24_NHS_review tag was added to gene: SAMD7.
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: samd7 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: SAMD7 were changed from Macular dystrophy; cone dystrophy to macular dystrophy, retinal, MONDO:0031166; Congenital stationary cone dysfunction, HP:0030637
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: SAMD7 were set to PMID: 38272031
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity
Siying Lin (Moorfields Eye Hospital)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