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Arthrogryposis

Gene: PIP5K1C

Amber List (moderate evidence)

PIP5K1C (phosphatidylinositol-4-phosphate 5-kinase type 1 gamma)
EnsemblGeneIds (GRCh38): ENSG00000186111
EnsemblGeneIds (GRCh37): ENSG00000186111
OMIM: 606102, Gene2Phenotype
PIP5K1C is in 2 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: A single variant has been reported, therefore should not be promoted to green until further evidence arises.
Created: 13 Jan 2017, 3:26 p.m.

Alice Gardham (Genomics England)

I don't know

Mutations only reported in two families. Possible disease gene on G2P. All missense/in frame variants
Created: 22 Dec 2016, 4:06 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lethal congenital contractural syndrome 3 611369

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Lethal congenital contractural syndrome 3 611369
Tags
founder-effect
OMIM
606102
Clinvar variants
Variants in PIP5K1C
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 2

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

13 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

13 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

22 Dec 2016, Gel status: 2

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for PIP5K1C were set to Lethal congenital contractural syndrome 3 611369

22 Dec 2016, Gel status: 2

Set publications

Alice Gardham (Genomics England)

Publications for PIP5K1C were set to 17701898

22 Dec 2016, Gel status: 2

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for PIP5K1C was changed to BIALLELIC, autosomal or pseudoautosomal

22 Dec 2016, Gel status: 2

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Amber List (Moderate Evidence).

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PIP5K1C was created by ellenmcdonagh

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PIP5K1C was added to Arthrogryposispanel. Sources: Expert list