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Arthrogryposis v9.7 AGRN Arina Puzriakova Classified gene: AGRN as Amber List (moderate evidence)
Arthrogryposis v9.7 AGRN Arina Puzriakova Gene: agrn has been classified as Amber List (Moderate Evidence).
Arthrogryposis v9.6 AGRN Arina Puzriakova Publications for gene: AGRN were set to 31730230
Arthrogryposis v9.5 AGRN Arina Puzriakova Phenotypes for gene: AGRN were changed from Fetal akinesia deformation sequence (FADS) to Fetal akinesia deformation sequence, MONDO:0008824
Arthrogryposis v9.4 AGRN Arina Puzriakova edited their review of gene: AGRN: Added comment: PMID: 39807604 (2025) - biallelic null variants in AGRN leading to a fetal akinesia deformation sequence (FADS) identified in a second family affecting three pregnancies. WES revealed a maternally inherited heterozygous variant c.952+1_952+3del and split-read analysis identified a paternally inherited heterozygous 41.33 kb deletion, encompassing exons 1 and 2 of AGRN.; Changed publications to: 31730230, 39807604; Changed phenotypes to: Fetal akinesia deformation sequence, MONDO:0008824
Arthrogryposis v3.52 AGRN Arina Puzriakova Phenotypes for gene: AGRN were changed from Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, OMIM:615120 to Fetal akinesia deformation sequence (FADS)
Arthrogryposis v3.51 AGRN Arina Puzriakova reviewed gene: AGRN: Rating: ; Mode of pathogenicity: None; Publications: 31730230; Phenotypes: Fetal akinesia deformation sequence; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v3.51 AGRN Arina Puzriakova Publications for gene: AGRN were set to
Arthrogryposis v3.50 AGRN Arina Puzriakova Phenotypes for gene: AGRN were changed from Myasthenia, limb-girdle, familial, 254300 to Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, OMIM:615120
Arthrogryposis v3.49 AGRN Arina Puzriakova Mode of inheritance for gene: AGRN was changed from to BIALLELIC, autosomal or pseudoautosomal
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.
Arthrogryposis GRN Alice Gardham marked GRN as ready
Arthrogryposis GRN Alice Gardham commented on GRN
Arthrogryposis AGRN Alice Gardham marked AGRN as ready
Arthrogryposis AGRN Alice Gardham reviewed AGRN