Arthrogryposis
Gene: PIP5K1CEnsemblGeneIds (GRCh38): ENSG00000186111
EnsemblGeneIds (GRCh37): ENSG00000186111
OMIM: 606102, Gene2Phenotype
PIP5K1C is in 5 panels
5 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 26 Sep 2024, 12:24 p.m. | Last Modified: 26 Sep 2024, 12:24 p.m.
Panel Version: 7.4
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: As there are three unrelated cases with biallelic variants (two unrelated cases with the same homozygous variant and two foetuses from one family with compound heterozygous variants), this gene can be promoted to green rating in the next GMS update.Created: 24 Apr 2024, 6:08 p.m. | Last Modified: 24 Apr 2024, 6:08 p.m.
Panel Version: 5.27
PMID: 17701898 - Two families reported with same homozygous variant (p.Asp253Asn).
PMID:38491417 - A novel variant (p.S318Ifs*28) and a different variant which has been reported in ClinVar (p.G230Qfs*114) has been identified in two foetuses with contractures and other joint abnormalities. The variants were confirmed to be in trans through parental testing.
Biallelic variants in this gene have been associated with relevant phenotypes in both OMIM (MIM #611369) and Gene2Phenotype (with 'limited' rating in the DD panel).Created: 24 Apr 2024, 6:06 p.m. | Last Modified: 24 Apr 2024, 6:06 p.m.
Panel Version: 5.26
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lethal congenital contractural syndrome 3, OMIM:611369
Publications
Hannah Knight (NIHR BioResource - University of Cambridge)
PMID: 38491417 - testing of two fetuses with contractures and other joint abnormalities identified a novel variant, (p.S318Ifs*28) and a different variant which has been reported in ClinVar (p.G230Qfs*114) in PIP5K1C. Confirmed in trans through parental testingCreated: 17 Apr 2024, 2:15 p.m. | Last Modified: 17 Apr 2024, 2:15 p.m.
Panel Version: 5.22
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lethal congenital contractural syndrome 3 611369
Publications
- PMID: 38491417
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)
Mutations only reported in two families. Possible disease gene on G2P. All missense/in frame variantsCreated: 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 Green
- NHS GMS
- Expert list
- Phenotypes
-
- Lethal congenital contractural syndrome 3, OMIM:611369
- Tags
- OMIM
- 606102
- Clinvar variants
- Variants in PIP5K1C
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q2_24_promote_green was removed from gene: PIP5K1C. Tag Q2_24_NHS_review was removed from gene: PIP5K1C.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to PIP5K1C. Source Expert Review Green was added to PIP5K1C. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: PIP5K1C were changed from Lethal congenital contractural syndrome 3 611369 to Lethal congenital contractural syndrome 3, OMIM:611369
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: PIP5K1C were set to 17701898
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: pip5k1c has been classified as Amber List (Moderate Evidence).
Added Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_24_promote_green tag was added to gene: PIP5K1C. Tag Q2_24_NHS_review tag was added to gene: PIP5K1C.
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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for PIP5K1C were set to Lethal congenital contractural syndrome 3 611369
Set publications
Alice Gardham (Genomics England)Publications for PIP5K1C were set to 17701898
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for PIP5K1C was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Amber List (Moderate Evidence).
Created
Ellen McDonagh (Genomics England Curator)PIP5K1C was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)PIP5K1C was added to Arthrogryposispanel. Sources: Expert list