Arthrogryposis
Gene: PIP5K1C
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
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
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.
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
Phenotypes for gene: PIP5K1C were changed from Lethal congenital contractural syndrome 3 611369 to Lethal congenital contractural syndrome 3, OMIM:611369
Publications for gene: PIP5K1C were set to 17701898
Gene: pip5k1c has been classified as Amber List (Moderate Evidence).
Tag Q2_24_promote_green tag was added to gene: PIP5K1C. Tag Q2_24_NHS_review tag was added to gene: PIP5K1C.
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.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for PIP5K1C were set to Lethal congenital contractural syndrome 3 611369
Publications for PIP5K1C were set to 17701898
Mode of inheritance for PIP5K1C was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
PIP5K1C was added to Arthrogryposispanel. Sources: Expert list
PIP5K1C was created by ellenmcdonagh