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  3. SRY
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Differences of Sex Development

Gene: SRY

Green List (high evidence)
SRY (sex determining region Y)
EnsemblGeneIds (GRCh38): ENSG00000184895
EnsemblGeneIds (GRCh37): ENSG00000184895
OMIM: 480000, Gene2Phenotype
SRY is in 3 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Sex reversal caused by either variants disrupting SRY or SRY sequences transposed onto the X.
Created: 6 Dec 2024, 12:08 a.m. | Last Modified: 6 Dec 2024, 12:08 a.m.
Panel Version: 0.348

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
46XX sex reversal 1, MIM# 400045; 46XY sex reversal 1 , MIM#400044

Publications

Created: 6 Dec 2024, 12:08 a.m.
Last Modified: 6 Dec 2024, 12:08 a.m.
Panel version: 0.348

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 46XX sex reversal 1, MIM# 400045
  • 46XY sex reversal 1 , MIM#400044
OMIM
480000
Clinvar variants
Variants in SRY
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sry has been classified as Green List (High Evidence).

8 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SRY were changed from to 46XX sex reversal 1, MIM# 400045; 46XY sex reversal 1 , MIM#400044

8 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SRY were set to

8 Dec 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SRY was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SRY was added gene: SRY was added to Disorders of Sex Differentiation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SRY was set to Unknown