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Arthrogryposis v9.30 DDR2 Ida Ertmanska gene: DDR2 was added
gene: DDR2 was added to Arthrogryposis. Sources: Literature
Q1_26_promote_green tags were added to gene: DDR2.
Mode of inheritance for gene: DDR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DDR2 were set to 30449416
Review for gene: DDR2 was set to GREEN
Added comment: 30449416 Xu et al,, 2018
6 patients from 4 unrelated families, 2 previously reported. All patients were heterozygous for one of the recurring DDR2 variants: c.1829T>C (p.Leu610Pro) or c.2219A>G (p.Tyr740Cys).
Phenotypic spectrum: contractures (6/6, variable severity), corneal vascularization (5/6), skin with little subcutaneous tissue (4/6), keloid-like plaques (4/6), loss of toes/toenails (4/6), joint swellings (4/6), and other less penetrant features.

This gene is associated with AD Warburg-Cinotti syndrome 618175 and AR Spondylometaepiphyseal dysplasia, short limb-hand type 271665 (OMIM accessed 13th Mar 2026).
Sources: Literature
Arthrogryposis v8.6 MET Arina Puzriakova Tag Q3_24_promote_green was removed from gene: MET.
Arthrogryposis v8.6 MET Arina Puzriakova reviewed gene: MET: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v8.5 MET Arina Puzriakova Source NHS GMS was added to MET.
Source Expert Review Green was added to MET.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v8.4 MET Achchuthan Shanmugasundram Classified gene: MET as Amber List (moderate evidence)
Arthrogryposis v8.4 MET Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, two unrelated cases and functional evidence are available in support of the disease association. Hence, this gene can be promoted to green rating in the next GMS update.
Arthrogryposis v8.4 MET Achchuthan Shanmugasundram Gene: met has been classified as Amber List (Moderate Evidence).
Arthrogryposis v8.3 MET Achchuthan Shanmugasundram Phenotypes for gene: MET were changed from Arthrogryposis to ?Arthrogryposis, distal, type 11, OMIM:620019
Arthrogryposis v8.2 MET Achchuthan Shanmugasundram Publications for gene: MET were set to PMID: 38429387; 30777867
Arthrogryposis v8.1 MET Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MET.
Arthrogryposis v8.1 MET Achchuthan Shanmugasundram reviewed gene: MET: Rating: GREEN; Mode of pathogenicity: None; Publications: 30777867, 38429387; Phenotypes: ?Arthrogryposis, distal, type 11, OMIM:620019; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v7.5 MET Dmitrijs Rots gene: MET was added
gene: MET was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: MET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MET were set to PMID: 38429387; 30777867
Phenotypes for gene: MET were set to Arthrogryposis
Penetrance for gene: MET were set to unknown
Mode of pathogenicity for gene: MET was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: MET was set to GREEN
Added comment: Reported a second family case in PMID: 38429387 after PMID: 30777867 with functional evidence in 30777867.
Sources: Literature
Arthrogryposis v3.109 FLNA Arina Puzriakova Phenotypes for gene: FLNA were changed from FLNA-related disorders; Otopalatodigital syndrome, type I 311300; Otopalatodigital syndrome, type II 304120; Terminal osseous dysplasia 300244 to Frontometaphyseal dysplasia 1, OMIM:305620; Otopalatodigital syndrome, type I, OMIM:311300; Otopalatodigital syndrome, type II, OMIM:304120; Terminal osseous dysplasia, OMIM:300244
Arthrogryposis v2.104 BICD2 Zerin Hyder changed review comment from: PMID:27751653 (Ravenscroft et al., 2016) report two unrelated probands (a German male and a boy from a Welsh mother and NZ/European father) that presented in utero with reduced fetal movement. Both cases had arthrogryposis multiplex congenita (AMC) and hypotonia diagnosed at birth . The same missense de novo variant in BICD2 (p.Arg694Cys) was present in both probands.
PMID:29274205 (Ahmed et al., 2018) report a stillborn female fetus (case 4) with pterygia and arthrogryposis with a heterozygous likely-pathogenic variant in BICD2. Phenotypes included an abnormal fetal position with fixed limbs, hydrops fetalis and polyhydramnios. A heterozygous p.Asn700Lys variant in BICD2 was revealed. However, compound het variants of unknown significance in AGRN were also identified, so the authors can not be certain that BICD2 is the causative variant.
PMID:28635954 (Storbeck et al., 2017) describe 3 individuals of independent families with severe severe arthrogryposis multiplex congenita (AMC), respiratory insufficiency, and early lethality caused by three BICD2 variants (p.Arg694Cys, p.Gln194Arg and p.Cys542Trp, 2 of which are proven to be de novo). They also describe an asymptomatic women with subclinical findings with the previously described p.(Thr703Met) variant.
PMID: 30054298. In 2 unrelated patients with muscular atrophy and arthrogryposis Koboldt et al. (2018) identified a de novo heterozygous c.1636_1638delAAT variant in the BICD2 gene. The mutation, which was found by whole-exome or whole-genome sequencing and confirmed by Sanger sequencing, was not found in the gnomAD database. Functional studies of the variant and studies of patient cells were not performed, but protein modeling indicated that the variant is within a region that interacts with the molecular kinesin motor and that the mutation would alter protein structure.; to: PMID:27751653 (Ravenscroft et al., 2016) report two unrelated probands (a German male and a boy from a Welsh mother and NZ/European father) that presented in utero with reduced fetal movement. Both cases had arthrogryposis multiplex congenita (AMC) and hypotonia diagnosed at birth . The same missense de novo variant in BICD2 (p.Arg694Cys) was present in both probands.
PMID:29274205 (Ahmed et al., 2018) report a stillborn female fetus (case 4) with pterygia and arthrogryposis with a heterozygous likely-pathogenic variant in BICD2. Phenotypes included an abnormal fetal position with fixed limbs, hydrops fetalis and polyhydramnios. A heterozygous p.Asn700Lys variant in BICD2 was revealed. However, compound het variants of unknown significance in AGRN were also identified, so the authors can not be certain that BICD2 is the causative variant.
PMID:28635954 (Storbeck et al., 2017) describe 3 individuals of independent families with severe arthrogryposis multiplex congenita (AMC), respiratory insufficiency, and early lethality caused by three BICD2 variants (p.Arg694Cys, p.Gln194Arg and p.Cys542Trp, 2 of which are proven to be de novo). They also describe an asymptomatic woman with subclinical findings with the previously described p.(Thr703Met) variant.
PMID: 30054298. In 2 unrelated patients with muscular atrophy and arthrogryposis Koboldt et al. (2018) identified a de novo heterozygous c.1636_1638delAAT variant in the BICD2 gene. The mutation, which was found by whole-exome or whole-genome sequencing and confirmed by Sanger sequencing, was not found in the gnomAD database. Functional studies of the variant and studies of patient cells were not performed, but protein modeling indicated that the variant is within a region that interacts with the molecular kinesin motor and that the mutation would alter protein structure.