Pituitary hormone deficiency

Gene: PSTPIP1

Red List (low evidence)

PSTPIP1 (proline-serine-threonine phosphatase interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000140368
EnsemblGeneIds (GRCh37): ENSG00000140368
OMIM: 606347, Gene2Phenotype
PSTPIP1 is in 7 panels

1 review

Ivone Leong (Genomics England Curator)

Comment on list classification: Demoted from amber to red as no evidence of variants in PSTPAP1 associated with Holoprosencephaly.
Created: 14 Dec 2018, 2:06 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (604416)
  • Holoprosencephaly
OMIM
606347
Clinvar variants
Variants in PSTPIP1
Penetrance
None
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Comment on list classification

14 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: pstpip1 has been classified as Red List (Low Evidence).

10 Dec 2018, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: PSTPIP1 was added gene: PSTPIP1 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: PSTPIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PSTPIP1 were set to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (604416); Holoprosencephaly