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  3. SAMD11
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Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: SAMD11

Red List (low evidence)
SAMD11 (sterile alpha motif domain containing 11)
EnsemblGeneIds (GRCh38): ENSG00000187634
EnsemblGeneIds (GRCh37): ENSG00000187634
OMIM: 616765, Gene2Phenotype
SAMD11 is in 1 panel

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Comment on list classification: Same variant in two families from the same region
Created: 7 Feb 2020, 9:16 p.m. | Last Modified: 7 Feb 2020, 9:16 p.m.
Panel Version: 0.14
The same homozygous stopgain (Arg630*) was identified in two ancestrally unrelated (confirmed by haplotype analysis) consanguineous Spanish families. Only expression analysis was conducted, with no functional assays conducted.
Created: 7 Feb 2020, 9:16 p.m. | Last Modified: 7 Feb 2020, 9:16 p.m.
Panel Version: 0.13

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa

Publications

Created: 7 Feb 2020, 9:16 p.m.
Last Modified: 7 Feb 2020, 9:16 p.m.
Panel version: 0.13

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Autosomal recessive retinitis pigmentosa
OMIM
616765
Clinvar variants
Variants in SAMD11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: samd11 has been classified as Red List (Low Evidence).

23 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: SAMD11 was added gene: SAMD11 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital Mode of inheritance for gene: SAMD11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SAMD11 were set to 27734943 Phenotypes for gene: SAMD11 were set to Autosomal recessive retinitis pigmentosa