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  3. SSR4
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TEST Undiagnosed metabolic disorders

Gene: SSR4

Green List (high evidence)
SSR4 (signal sequence receptor subunit 4)
EnsemblGeneIds (GRCh38): ENSG00000180879
EnsemblGeneIds (GRCh37): ENSG00000180879
OMIM: 300090, Gene2Phenotype
SSR4 is in 5 panels

0 reviews

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
OMIM
300090
Clinvar variants
Variants in SSR4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Aug 2019, Gel status: 3

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

Sarah Leigh (Genomics England Curator)

gene: SSR4 was added gene: SSR4 was added to TEST Undiagnosed metabolic disorders. Sources: Expert Review Green Mode of inheritance for gene: SSR4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SSR4 were set to 26264460