| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Arthrogryposis v5.31 | FILIP1 | Achchuthan Shanmugasundram Tag gene-checked was removed from gene: FILIP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.17 | FILIP1 | Eleanor Williams Tag gene-checked tag was added to gene: FILIP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.17 | FILIP1 | Eleanor Williams commented on gene: FILIP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.15 | FILIP1 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: FILIP1. Tag Q2_23_NHS_review was removed from gene: FILIP1. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.15 | FILIP1 | Sarah Leigh reviewed gene: FILIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.14 | FILIP1 |
Sarah Leigh Source NHS GMS was added to FILIP1. Source Expert Review Green was added to FILIP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.13 | FILIP1 | Achchuthan Shanmugasundram Publications for gene: FILIP1 were set to 36943452; 36344539; 37163662 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.12 | FILIP1 | Achchuthan Shanmugasundram Tag Q2_23_NHS_review tag was added to gene: FILIP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.12 | FILIP1 | Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: FILIP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.12 | FILIP1 | Achchuthan Shanmugasundram Classified gene: FILIP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.12 | FILIP1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (6 unrelated cases) for this gene to be promoted to GREEN rating in the next major update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.12 | FILIP1 | Achchuthan Shanmugasundram Gene: filip1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.11 | FILIP1 | Achchuthan Shanmugasundram Publications for gene: FILIP1 were set to PubMed: 36344539; PubMed: 36943452; PMID: 37163662 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.10 | FILIP1 |
Achchuthan Shanmugasundram changed review comment from: PMID:36344539 reported a single male with biallelic variant in FILIP1 (c.2665C > T/ p.Arg889Ter) gene and presenting with distal arthrogryposis with contractures of the knees and elbows, congenital clubfoot, muscular hypotonia, and mild learning disability. PMID:36943452 reported five individuals from three unrelated families with three different biallelic variants in FILIP1 gene (including the variant reported in the patient from PMID:36344539) and presenting with an overlapping phenotype with congenital contractures affecting shoulder, elbow, hand, hip, knee and foot as well as scoliosis, reduced palmar and plantar skin folds, microcephaly and facial dysmorphism.; to: PMID:36344539 reported a single male with biallelic variant in FILIP1 (c.2665C > T/ p.Arg889Ter) gene and presenting with distal arthrogryposis with contractures of the knees and elbows, congenital clubfoot, muscular hypotonia, and mild learning disability. PMID:36943452 reported five individuals from three unrelated families with three different biallelic variants in FILIP1 gene (including the variant reported in the patient from PMID:36344539) and presenting with an overlapping phenotype with congenital contractures affecting shoulder, elbow, hand, hip, knee and foot as well as scoliosis, reduced palmar and plantar skin folds, microcephaly and facial dysmorphism. PMID:37163662 reported five individuals from four unrelated families with four different biallelic variants, out of which three individuals from two different families presented with congenital onset of contractures. This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.10 | FILIP1 | Achchuthan Shanmugasundram edited their review of gene: FILIP1: Changed publications to: 36943452, 36344539, 37163662 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.10 | FILIP1 | Achchuthan Shanmugasundram Phenotypes for gene: FILIP1 were changed from neurodevelopmental delay; arthrogryposis; muscular hypotonia; mild learning difficulties to arthrogryposis multiplex congenita, MONDO:0015168 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.9 | FILIP1 | Achchuthan Shanmugasundram reviewed gene: FILIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36943452, 36344539; Phenotypes: arthrogryposis multiplex congenita, MONDO:0015168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.9 | FILIP1 |
Simon Thomas gene: FILIP1 was added gene: FILIP1 was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: FILIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FILIP1 were set to PubMed: 36344539; PubMed: 36943452; PMID: 37163662 Phenotypes for gene: FILIP1 were set to neurodevelopmental delay; arthrogryposis; muscular hypotonia; mild learning difficulties Penetrance for gene: FILIP1 were set to unknown Review for gene: FILIP1 was set to GREEN Added comment: FILIP1 is not an OMIM Morbid gene. All variants submitted to ClinVar are missense variants of uncertain clinical significance and there are only 3 variants recorded in HDMDPro as?DM. However, two publications in 2023 have established a gene-disease association in 7 unrelated families. All were consanguineous and had a homozygous FILIP1 variant (5 x LoF and 2 x missense). There is also a mouse model (PMID: 29618024). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||