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Newborns main panel

Gene: GPR101

Green List (high evidence)
GPR101 (G protein-coupled receptor 101)
EnsemblGeneIds (GRCh38): ENSG00000165370
EnsemblGeneIds (GRCh37): ENSG00000165370
OMIM: 300393, Gene2Phenotype
GPR101 is in 0 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Awareness.

Additional Information: All simplex males reported to date are somatic mosaic.
Created: 26 Sep 2024, 3:31 p.m. | Last Modified: 26 Sep 2024, 3:31 p.m.
Panel Version: 0.469
Special Consideration: Females should be reported.

Additional Information: Report males and females.
Created: 26 Sep 2024, 3:31 p.m. | Last Modified: 26 Sep 2024, 3:31 p.m.
Panel Version: 0.469
Created: 26 Sep 2024, 3:31 p.m.
Last Modified: 26 Sep 2024, 3:31 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is gain-of-function (GOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID:33184694 - review of literature - dup leads to overexpression - c/w GOF. https://www.ncbi.nlm.nih.gov/books/NBK476671/
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
All reported cases due to gene duplication. All simplex males reported to date are somatic mosaic.
Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.
Panel Version: 0.133
gene dosage (duplication)
Created: 28 Mar 2023, 9:59 a.m. | Last Modified: 28 Mar 2023, 9:59 a.m.
Panel Version: 0.47
Created: 28 Mar 2023, 9:59 a.m.
Last Modified: 28 Mar 2023, 9:59 a.m.
Panel version: 0.137

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
Phenotypes
  • Growth hormone-secreting pituitary adenoma-2
Tags
gene-duplication special_consideration
OMIM
300393
Clinvar variants
Variants in GPR101
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: GPR101.

27 Oct 2023, Gel status: 3

Removed Tag, Added Tag

Mafalda Gomes (Genomics England Curator)

Tag gene_duplication was removed from gene: GPR101. Tag gene-duplication tag was added to gene: GPR101.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Growth hormone-secreting pituitary adenoma-2 for gene: GPR101

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to GPR101. Added phenotypes Growth hormone-secreting pituitary adenoma-2 for gene: GPR101 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set mode of pathogenicity, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to GPR101. Mode of pathogenicity for gene GPR101 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Growth hormone-secreting pituitary adenoma-2 for gene: GPR101 Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to GPR101. Rating Changed from Amber List (moderate evidence) to No List (delete)

28 Mar 2023, Gel status: 2

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag gene_duplication tag was added to gene: GPR101.

27 Mar 2023, Gel status: 2

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

Mafalda Gomes (Genomics England Curator)

gene: GPR101 was added gene: GPR101 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: GPR101 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: GPR101 were set to Growth hormone-secreting pituitary adenoma-2