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  3. PROP1
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Hypogonadotropic hypogonadism (GMS)

Gene: PROP1

Green List (high evidence)
PROP1 (PROP paired-like homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000175325
EnsemblGeneIds (GRCh37): ENSG00000175325
OMIM: 601538, Gene2Phenotype
PROP1 is in 11 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 6 Dec 2024, 8:12 a.m. | Last Modified: 6 Dec 2024, 8:12 a.m.
Panel Version: 3.22
Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Created: 10 Nov 2023, 1:45 p.m. | Last Modified: 10 Nov 2023, 1:45 p.m.
Panel Version: 3.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pituitary hormone deficiency, combined, 2, OMIM:262600

Publications

Created: 10 Nov 2023, 1:41 p.m.
Last Modified: 10 Nov 2023, 1:41 p.m.
Panel version: 3.22

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Hypogonadism is a feature of the associated phenotype (OMIM)

PMID: 15941866: 3 brothers from a consanguineous Tunisian family who presented with IHH initially.

PMID: 11549703: 8 families reported. All patients had complete hypogonadotrophic hypogonadism.
Created: 1 Nov 2023, 3:02 a.m. | Last Modified: 1 Nov 2023, 3:02 a.m.
Panel Version: 3.9

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pituitary hormone deficiency, combined, 2 (MIM#262600)

Publications

Created: 1 Nov 2023, 3:02 a.m.
Last Modified: 1 Nov 2023, 3:02 a.m.
Panel version: 3.9

Simon Thomas (Wessex Regional Genetics Laboratory)

Red List (low evidence)

Created: 22 Mar 2019, 5:03 p.m.

Panel version: 0.7

Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

Red List (low evidence)

Created: 15 Mar 2019, 11:15 a.m.

Panel version: 0.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Pituitary hormone deficiency, combined, 2, OMIM:262600
OMIM
601538
Clinvar variants
Variants in PROP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: PROP1.

6 Dec 2024, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to PROP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

10 Nov 2023, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: PROP1 were changed from Combined Pituitary Hormone deficiency (OMIM 262600) to Pituitary hormone deficiency, combined, 2, OMIM:262600

10 Nov 2023, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: PROP1 were set to

10 Nov 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: prop1 has been classified as Amber List (Moderate Evidence).

10 Nov 2023, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green tag was added to gene: PROP1.

22 Mar 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source Wessex and West Midlands GLH was added to PROP1.

15 Mar 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Added phenotypes Combined Pituitary Hormone deficiency (OMIM 262600) for gene: PROP1

15 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: PROP1 was added gene: PROP1 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal