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Intellectual disability

Gene: PHIP

Green List (high evidence)

PHIP (pleckstrin homology domain interacting protein)
EnsemblGeneIds (GRCh38): ENSG00000146247
EnsemblGeneIds (GRCh37): ENSG00000146247
OMIM: 612870, Gene2Phenotype
PHIP is in 4 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Changed rating from Red to Green. Publications now support gene-disease association and rating of this gene to Green on the ID panel.
Created: 27 Sep 2018, 3:49 p.m.
Comment on phenotypes: updated with OMIN and MIMid
Created: 27 Sep 2018, 3:47 p.m.
Recommendation that this gene should be Green based on recent publication PMID:29209020, more than 20 unrelated cases Pers comm. Ian Berry (NHS Leeds Genetics Laboratory)
Created: 27 Sep 2018, 3:41 p.m.
There is currently no evidence to suggest there is an association of this gene with intellectual disability.
Created: 18 Dec 2017, 3:39 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Developmental delay, intellectual disability, obesity, and dysmorphic features, 617991

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
INTELLECTUAL DISABILITY

Publications

  • 0

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY
  • Developmental delay, intellectual disability, obesity, and dysmorphic features, 617991
OMIM
612870
Clinvar variants
Variants in PHIP
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

27 Sep 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: PHIP were changed from INTELLECTUAL DISABILITY to INTELLECTUAL DISABILITY; Developmental delay, intellectual disability, obesity, and dysmorphic features, 617991

27 Sep 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: PHIP were set to 0

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PHIP was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PHIP was created by ellenmcdonagh