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Intellectual disability

Gene: PPM1D

Green List (high evidence)

PPM1D (protein phosphatase, Mg2+/Mn2+ dependent 1D)
EnsemblGeneIds (GRCh38): ENSG00000170836
EnsemblGeneIds (GRCh37): ENSG00000170836
OMIM: 605100, Gene2Phenotype
PPM1D is in 7 panels

3 reviews

Louise Daugherty (Genomics England Curator)

This is a BRIDGE study SPEED NEURO Tier1 Gene
Created: 17 Aug 2017, 3:18 p.m.
Comment on phenotypes: reformatted
Created: 17 Aug 2017, 3:14 p.m.
Comment on publications: added new publications to support phenotype
Created: 17 Aug 2017, 3:13 p.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_gilissen_2014_known . Main mutation mechanism : NA
Created: 27 Jul 2017, 8:06 p.m.

Mode of inheritance
Unknown

Publications

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: 14 cases in PMID referenced. De novo truncations identified. Suitable for use on ID panel.
Created: 11 May 2017, 8:26 a.m.
14 cases described in listed PMID with ID, behavioural phenotype and other features. De novo truncations identified.
Created: 11 May 2017, 8:24 a.m.

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

Phenotypes
617450 INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, 617450
  • IDDGIP
OMIM
605100
Clinvar variants
Variants in PPM1D
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to PPM1D.

12 Mar 2018, Gel status: 3

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.

17 Aug 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PPM1D were set to Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, 617450; IDDGIP

17 Aug 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for PPM1D were set to 28343630; 25529582; 24896178

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 May 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

PPM1D was added to Intellectual disabilitypanel. Sources: Literature

11 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

PPM1D was created by helen.brittain