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  3. PROP1
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Pituitary hormone deficiency

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

1 review

Ivone Leong (Genomics England Curator)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 29 Jan 2019, noon
PROP1 is confirmed to be associated with combined pituitary hormone deficiency 2 in OMIM and Gene2Phenotype. PROP1 is a green gene in the Congenital hypothyroidism panel (Version 1.4). There are >3 reported cases of unrelated patients with combined pituitary hormone deficiency who have variants in PROP1 listed in OMIM.
Created: 7 Dec 2018, 11:04 a.m.
Created: 7 Dec 2018, 11:04 a.m.

Panel version: 0.71

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Pituitary hormone deficiency, combined, 2 (262600)
OMIM
601538
Clinvar variants
Variants in PROP1
Penetrance
None
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: PROP1 is confirmed to be assoc

8 Jan 2019, Gel status: 4

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: prop1 has been classified as Green List (High Evidence).

7 Dec 2018, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: PROP1 was added gene: PROP1 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined, 2 (262600)