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Arthrogryposis v2.108 TOR1A Julie Vogt gene: TOR1A was added
gene: TOR1A was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: TOR1A was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: TOR1A were set to PMID: 30244176, 29053766, 28516161
Phenotypes for gene: TOR1A were set to arthrogryposis with developmental delay, strabismus and tremor; dystonia
Penetrance for gene: TOR1A were set to unknown
Review for gene: TOR1A was set to GREEN
gene: TOR1A was marked as current diagnostic
Added comment: Sources: Expert list
Arthrogryposis v2.108 DYNC1H1 Julie Vogt edited their review of gene: DYNC1H1: Changed phenotypes: arthrogryposis, spinal muscular atrophy with lower extremity predominance, neuronal migration abnormalities
Arthrogryposis v2.108 DYNC1H1 Julie Vogt gene: DYNC1H1 was added
gene: DYNC1H1 was added to Arthrogryposis. Sources: Other
Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DYNC1H1 were set to PMID: 25609763; 25512093; 28554554
Phenotypes for gene: DYNC1H1 were set to arthrogryposis; spinal muscular atrophy with lower extremity predominance
Review for gene: DYNC1H1 was set to GREEN
gene: DYNC1H1 was marked as current diagnostic
Added comment: Sources: Other
Arthrogryposis v2.108 L1CAM Julie Vogt changed review comment from: Sources: Other; to: Sources: Other
Arthrogryposis v2.108 L1CAM Julie Vogt gene: L1CAM was added
gene: L1CAM was added to Arthrogryposis. Sources: Other
Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: L1CAM were set to PMID: 31504653
Phenotypes for gene: L1CAM were set to arthrogryposis; congenital hypopituitarism
Review for gene: L1CAM was set to RED
Added comment: Sources: Other
Arthrogryposis v2.108 BICD2 Rebecca Foulger Phenotypes for gene: BICD2 were changed from Spinal muscular atrophy, lower extremity-predominant, 2A, 615290; autosomal dominant, Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291 to arthrogryposis multiplex congenita; Spinal muscular atrophy, lower extremity-predominant, 2A, 615290; autosomal dominant, Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291
Arthrogryposis v2.107 BICD2 Rebecca Foulger Classified gene: BICD2 as Green List (high evidence)
Arthrogryposis v2.107 BICD2 Rebecca Foulger Added comment: Comment on list classification: Promoted BICD2 from Red to Green based on recent literature evidence and Green review by Zerin Hyder (Genomics England Clinical Team). Sufficient unrelated cases of AMC for inclusion on panel.
Arthrogryposis v2.107 BICD2 Rebecca Foulger Gene: bicd2 has been classified as Green List (High Evidence).
Arthrogryposis v2.106 BICD2 Rebecca Foulger Publications for gene: BICD2 were set to 28635954
Arthrogryposis v2.105 BICD2 Rebecca Foulger Mode of inheritance for gene: BICD2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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 v2.104 BICD2 Zerin Hyder reviewed gene: BICD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27751653, 29274205, 28635954, 30054298; Phenotypes: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 615290, Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v2.104 BICD2 Rebecca Foulger Phenotypes for gene: BICD2 were changed from Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291 to Spinal muscular atrophy, lower extremity-predominant, 2A, 615290; autosomal dominant, Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291
Arthrogryposis v2.103 BICD2 Rebecca Foulger Phenotypes for gene: BICD2 were changed from to Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291
Arthrogryposis v2.102 BICD2 Rebecca Foulger Publications for gene: BICD2 were set to
Arthrogryposis v2.101 TTN Rebecca Foulger changed review comment from: Comment on mode of inheritance: Changed MOI from 'BOTH monoallelic and biallelic' to 'BIALLELIC' to match MOI on 'Neuromuscular arthrogryposis' panel V0.21 and review on DDG2P panel by Lucy Raymond.; to: Comment on mode of inheritance: With agreement from Zerin Hyder, changed MOI from 'BOTH monoallelic and biallelic' to 'BIALLELIC' to match MOI on 'Neuromuscular arthrogryposis' panel V0.21 and review on DDG2P panel by Lucy Raymond.
Arthrogryposis v2.101 TTN Zerin Hyder changed review comment from: Bryen et al: eight families with arthrogryposis multiplex congenita and myopathy bearing a TTN intron 213 extended splice-site variant (c.39974-11T>G), inherited in trans with a second pathogenic TTN variant.
By Sanger sequencing the TTN gene in 31 patients from 23 families segregating congenital core myopathy and primary heart disease, Chauveau et al. (2014) identified homozygous or compound heterozygous mutations in 5 patients from 4 families. The severity of the phenotype varied among the families. All 5 patients had congenital or infantile muscle weakness with axial and distal joint contractures and relatively preserved respiratory function. One individual presented with arthrogryposis, dislocated hips with dysplasia, and elbow, hip, and knee contractures.
Two families with AMC and biallelic truncating mutations in 29575618; 28040389.; to: By Sanger sequencing the TTN gene in 31 patients from 23 families segregating congenital core myopathy and primary heart disease, Chauveau et al. (2014) identified homozygous or compound heterozygous mutations in 5 patients from 4 families. The severity of the phenotype varied among the families. All 5 patients had congenital or infantile muscle weakness with axial and distal joint contractures and relatively preserved respiratory function. One individual presented with arthrogryposis, dislocated hips with dysplasia, and elbow, hip, and knee contractures.
Bryen et al: eight families with arthrogryposis multiplex congenita and myopathy bearing a TTN intron 213 extended splice-site variant (c.39974-11T>G), inherited in trans with a second pathogenic TTN variant.
Two families with AMC and biallelic truncating mutations in 29575618; 28040389.
Arthrogryposis v2.101 SLC18A3 Rebecca Foulger Classified gene: SLC18A3 as Amber List (moderate evidence)
Arthrogryposis v2.101 SLC18A3 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber on advice from Zerin Hyder (Genomics England clinical team): 2 families with strong link to arthrogryposis.
Arthrogryposis v2.101 SLC18A3 Rebecca Foulger Gene: slc18a3 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v2.100 TOR1AIP1 Rebecca Foulger Classified gene: TOR1AIP1 as Red List (low evidence)
Arthrogryposis v2.100 TOR1AIP1 Rebecca Foulger Added comment: Comment on list classification: One family (PMID:24856141) supports a Red rating.
Arthrogryposis v2.100 TOR1AIP1 Rebecca Foulger Gene: tor1aip1 has been classified as Red List (Low Evidence).
Arthrogryposis v2.99 TOR1AIP1 Rebecca Foulger gene: TOR1AIP1 was added
gene: TOR1AIP1 was added to Arthrogryposis. Sources: Literature,Other
Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOR1AIP1 were set to 24856141
Phenotypes for gene: TOR1AIP1 were set to joint contractures; ?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, 617072
Added comment: Added TOR1AIP1 to panel based on Amber rating on R266 Neuromuscular arthrogryposis panel, and PMID:24856141 2014 paper who report a consanguineous Turkish family with muscle weakness, atrophy and joint contractures in three affected individuals (2 siblings and a cousin). They all had a homozygous variant in TOR1AIP1 (c.186delG causing a premature stop codon). Healthy parents were heterozygous carriers, and allele segregation in the family supported recessive inheritance.
Sources: Literature, Other
Arthrogryposis v2.98 SLC18A3 Rebecca Foulger Added comment: Comment on publications: PMID:27590285: report individuals from 2 families with biallelic SLC18A3 variants and presynaptic congenital myasthenic syndrome.
Arthrogryposis v2.98 SLC18A3 Rebecca Foulger Publications for gene: SLC18A3 were set to 28188302; 27590285; 31059209
Arthrogryposis v2.97 SLC18A3 Rebecca Foulger commented on gene: SLC18A3: PMID:28188302 (Aran et al., 2017) report 2 brothers from a nonconsanguineous Yemeni Jewish family manifested at birth with severe hypotonia and arthrogryposis. The brothers were homozygous for missense variant in SLC18A3 c.1078G>C, p.Gly360Arg.
Arthrogryposis v2.97 SLC18A3 Rebecca Foulger commented on gene: SLC18A3: PMID:31059209 (Hakonen et al., 2019) report 2 sibling Finnish fetuses with with fetal akinesia, arthrogryposis, edema, and partial cleft palate and a homozygous variant in SLC18A3: c.1116C>A, p.(Cys372Ter). The parents were distant relatives.
Arthrogryposis v2.97 SLC18A3 Rebecca Foulger Classified gene: SLC18A3 as Amber List (moderate evidence)
Arthrogryposis v2.97 SLC18A3 Rebecca Foulger Gene: slc18a3 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v2.96 SLC18A3 Rebecca Foulger gene: SLC18A3 was added
gene: SLC18A3 was added to Arthrogryposis. Sources: Other,Literature
Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC18A3 were set to 28188302; 27590285; 31059209
Phenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic, 617239; arthrogryposis
Added comment: Added to panel based on Amber rating on Neuromuscular arthrogryposis panel V0.21 and literature evidence supporting an Arthrogryposis phenotype.
Sources: Other, Literature
Arthrogryposis v2.95 Rebecca Foulger List of related panels changed from Arthrogrythsis to Arthrogrythsis; R83
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Arthrogryposis v2.94 MAGEL2 Rebecca Foulger Phenotypes for gene: MAGEL2 were changed from Schaaf-Yang syndrome, 615547; ARTHROGRYPOSIS MULTIPLEX CONGENITA to Schaaf-Yang syndrome, 615547; ARTHROGRYPOSIS MULTIPLEX CONGENITA; Prader-Willi-Like syndrome
Arthrogryposis v2.93 MAGEL2 Rebecca Foulger Publications for gene: MAGEL2 were set to 26365340; 27195816; 31504653; 29359444
Arthrogryposis v2.92 TTN Rebecca Foulger Publications for gene: TTN were set to 24105469; 28040389; 31660661
Arthrogryposis v2.91 DPAGT1 Rebecca Foulger Publications for gene: DPAGT1 were set to 26033833; 30653653; 22742743; 20301347
Arthrogryposis v2.90 SMN1 Rebecca Foulger Phenotypes for gene: SMN1 were changed from arthrogryposis; SMA 0 to arthrogryposis; SMA 0; Spinal muscular atrophy-1, 253300; Spinal muscular atrophy-2, 253550; Spinal muscular atrophy-3, 253400; Spinal muscular atrophy-4, 271150
Arthrogryposis v2.89 SMN1 Rebecca Foulger Publications for gene: SMN1 were set to 27911332; 10700538; 11826188
Arthrogryposis v2.88 ATAD1 Rebecca Foulger Classified gene: ATAD1 as Amber List (moderate evidence)
Arthrogryposis v2.88 ATAD1 Rebecca Foulger Added comment: Comment on list classification: Demoted ATAD1 from Green to Amber following review and advice from Zerin Hyder (Genomics England Clinical Team). The AMC phenotype is not yet well enough described for inclusion on the panel.
Arthrogryposis v2.88 ATAD1 Rebecca Foulger Gene: atad1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v2.87 GFM2 Rebecca Foulger Classified gene: GFM2 as Red List (low evidence)
Arthrogryposis v2.87 GFM2 Rebecca Foulger Added comment: Comment on list classification: Demoted GFM2 from Amber to Red following confirmation by Zerin Hyder (Genomics England Clinical Team): limited evidence.
Arthrogryposis v2.87 GFM2 Rebecca Foulger Gene: gfm2 has been classified as Red List (Low Evidence).
Arthrogryposis v2.86 CACNA1E Rebecca Foulger Classified gene: CACNA1E as Green List (high evidence)
Arthrogryposis v2.86 CACNA1E Rebecca Foulger Added comment: Comment on list classification: Updated rating of CACNA1E from Amber to Green following review and confirmation from Zerin Hyder (Genomics England Clinical Team).
Arthrogryposis v2.86 CACNA1E Rebecca Foulger Gene: cacna1e has been classified as Green List (High Evidence).
Arthrogryposis v2.85 CACNA1E Rebecca Foulger Added comment: Comment on mode of pathogenicity: Set Mode of pathogenicity to 'Other' following Zerin Hyder's review about G.O.F variants in PMID:30343943 (Helbig et al., 2018).
Arthrogryposis v2.85 CACNA1E Rebecca Foulger Mode of pathogenicity for gene: CACNA1E was changed from to Other
Arthrogryposis v2.84 SMN1 Zerin Hyder reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10700538, 27911332, 8787675; Phenotypes: spinal muscular atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v2.84 CACNA1E Zerin Hyder reviewed gene: CACNA1E: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30343943; Phenotypes: Epileptic encephalopathy, early infantile, 69; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v2.84 ATAD1 Zerin Hyder reviewed gene: ATAD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29659736, 29390050, 28180185; Phenotypes: Hyperekplexia 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v2.84 DHCR24 Zerin Hyder changed review comment from: Schaaf et al: one case with dermosterolsis with relative macrocephaly, mild arthrogryposis, and dysmorphic facial features. The diagnosis of desmosterolosis was established by detection of significant elevation of plasma desmosterol levels and reduced enzyme activity of DHCR24 upon expression of the patient's DHCR24 cDNA. The patient was found to be a compound heterozygote for c.281G>A (p.R94H) and c.1438G>A (p.E480K) mutations. 4 individuals in Bedouin kindred with dermosterolsis and distal contractures. Two other reports 12457401; 29175559 in association with milder phenotype of AMC.; to: Schaaf et al: patient with dermosterolsis with relative macrocephaly, mild arthrogryposis, and dysmorphic facial features. The diagnosis of desmosterolosis was established by detection of significant elevation of plasma desmosterol levels and reduced enzyme activity of DHCR24 upon expression of the patient's DHCR24 cDNA. The patient was found to be a compound heterozygote for c.281G>A (p.R94H) and c.1438G>A (p.E480K) mutations. 4 individuals in Bedouin kindred with dermosterolsis and distal contractures. Two other reports 12457401; 29175559 in association with milder phenotype of AMC.
Arthrogryposis v2.84 DHCR24 Zerin Hyder reviewed gene: DHCR24: Rating: GREEN; Mode of pathogenicity: None; Publications: 21671375, 12457401, 29175559, 21559050; Phenotypes: Desmosterolosis 602398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v2.84 ALG3 Zerin Hyder reviewed gene: ALG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16006436, 26453362, 28742265; Phenotypes: Congenital disorder of glycosylation, type Id 601110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v2.84 DPAGT1 Zerin Hyder changed review comment from: Green gene on neuromuscular arthrogryposis panel.
Ganetzky et al, 2015: Newborn female with arthrogryposis multiplex due to fetal akinesia. Transferrin isoelectric focusing was suggestive of a type I congenital disorder of glycosylation; sequencing revealed homozygous missense mutation in DPAGT1.
Carrera et al: DPAGT1-CDG in patient with fetal hypokinesia and AMC.
Contractures reported in association with congenital myaesthenic syndrome in 23447650; to: Green gene on neuromuscular arthrogryposis panel.
Ganetzky et al, 2015: Newborn female with arthrogryposis multiplex due to fetal akinesia. Transferrin isoelectric focusing was suggestive of a type I congenital disorder of glycosylation; sequencing revealed homozygous missense mutation in DPAGT1.
Carrera et al: DPAGT1-CDG in patient with fetal hypokinesia and AMC.
Multiple joint contractures reported in association with congenital myaesthenic syndrome and DPAGT1 mutations.
Arthrogryposis v2.84 DPAGT1 Zerin Hyder changed review comment from: Green gene on neuromuscular arthrogryposis panel.
Ganetzky et al, 2015: Newborn female with arthrogryposis multiplex due to fetal akinesia. Transferrin isoelectric focusing was suggestive of a type I congenital disorder of glycosylation; sequencing revealed homozygous missense mutation in DPAGT1.
Carrera et al: DPAGT1-CDG in patient with fetal hypokinesia and AMC.
Contractures reported in association with congenital myaesthenic syndrome.; to: Green gene on neuromuscular arthrogryposis panel.
Ganetzky et al, 2015: Newborn female with arthrogryposis multiplex due to fetal akinesia. Transferrin isoelectric focusing was suggestive of a type I congenital disorder of glycosylation; sequencing revealed homozygous missense mutation in DPAGT1.
Carrera et al: DPAGT1-CDG in patient with fetal hypokinesia and AMC.
Contractures reported in association with congenital myaesthenic syndrome in 23447650
Arthrogryposis v2.84 DPAGT1 Zerin Hyder reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26033833, 22786653, 30653653, 22492991; Phenotypes: Congenital disorder of glycosylation, type Ij; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v2.84 TTN Zerin Hyder reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 24105469, 31660661, 29575618, 28040389; Phenotypes: Salih myopathy, Muscular dystrophy, limb-girdle, autosomal recessive 10; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v2.84 MAGEL2 Zerin Hyder reviewed gene: MAGEL2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24076603, 27195816, 26365340; Phenotypes: Schaaf-Yang syndrome, Prader-Willi-Like syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Arthrogryposis v2.84 ATAD1 Rebecca Foulger Phenotypes for gene: ATAD1 were changed from Hyperekplexia 4 to Hyperekplexia 4, 618011
Arthrogryposis v2.83 ERCC5 Rebecca Foulger Phenotypes for gene: ERCC5 were changed from Cerebrooculofacioskeletal syndrome 3 to Cerebrooculofacioskeletal syndrome 3, 616570
Arthrogryposis v2.82 ERCC1 Rebecca Foulger Phenotypes for gene: ERCC1 were changed from Cerebrooculofacioskeletal syndrome 4 to Cerebrooculofacioskeletal syndrome 4, 610758
Arthrogryposis v2.81 CEP55 Rebecca Foulger Phenotypes for gene: CEP55 were changed from Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly, 236500
Arthrogryposis v2.80 DHCR24 Rebecca Foulger Phenotypes for gene: DHCR24 were changed from dermosterolsis to Dermosterolsis, 602398
Arthrogryposis v2.79 ALG3 Rebecca Foulger Phenotypes for gene: ALG3 were changed from Congenital disorder of glycosylation, type Id to Congenital disorder of glycosylation, type Id, 601110
Arthrogryposis v2.78 TRIP4 Rebecca Foulger Phenotypes for gene: TRIP4 were changed from Spinal muscular atrophy with congenital bone fractures 1 to Spinal muscular atrophy with congenital bone fractures 1, 616866
Arthrogryposis v2.77 GFM2 Rebecca Foulger Phenotypes for gene: GFM2 were changed from Combined oxidative phosphorylation deficiency 39, 618397 to Combined oxidative phosphorylation deficiency 39, 618397; arthrogryposis multiplex congenita
Arthrogryposis v2.76 CACNA1E Rebecca Foulger Classified gene: CACNA1E as Amber List (moderate evidence)
Arthrogryposis v2.76 CACNA1E Rebecca Foulger Added comment: Comment on list classification: Promoted to Amber awaiting clinical review: PMID:30343943 (Helbig et al., 2018) identified 30 unrelated individuals with missense variants in CACNA1E. 13/30 (43%) affected individuals had congenital joint contractures ranging from isolated talipes equinovarus to arthrogryposis multiplex congenita.
Arthrogryposis v2.76 CACNA1E Rebecca Foulger Gene: cacna1e has been classified as Amber List (Moderate Evidence).
Arthrogryposis v2.75 CACNA1E Rebecca Foulger Phenotypes for gene: CACNA1E were changed from Epileptic encephalopathy, early infantile, 69, 618285 to Epileptic encephalopathy, early infantile, 69, 618285; congenital joint contractures
Arthrogryposis v2.74 CACNA1E Rebecca Foulger Mode of inheritance for gene: CACNA1E was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Arthrogryposis v2.73 CACNA1E Rebecca Foulger Phenotypes for gene: CACNA1E were changed from to Epileptic encephalopathy, early infantile, 69, 618285
Arthrogryposis v2.72 CACNA1E Rebecca Foulger Publications for gene: CACNA1E were set to
Arthrogryposis v2.71 GFM2 Rebecca Foulger Classified gene: GFM2 as Amber List (moderate evidence)
Arthrogryposis v2.71 GFM2 Rebecca Foulger Added comment: Comment on list classification: Demoted to Amber awaiting clinical review: limited evidence.
Arthrogryposis v2.71 GFM2 Rebecca Foulger Gene: gfm2 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v2.70 GFM2 Rebecca Foulger Mode of inheritance for gene: GFM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v2.69 GFM2 Rebecca Foulger Publications for gene: GFM2 were set to 30343943
Arthrogryposis v2.68 GFM2 Rebecca Foulger Phenotypes for gene: GFM2 were changed from Epileptic encephalopathy, early infantile, 69 to Combined oxidative phosphorylation deficiency 39, 618397
Arthrogryposis v2.67 SLC6A9 Rebecca Foulger Classified gene: SLC6A9 as Amber List (moderate evidence)
Arthrogryposis v2.67 SLC6A9 Rebecca Foulger Added comment: Comment on list classification: Rated SLC6A9 Amber in consultation with Zerin Hyder (Genomics England Clinical Team) based on literature cases (PMIDs 27773429, 27481395), and a Probable rating for an Arthrogryposis disorder in Gene2Phenotype.
Arthrogryposis v2.67 SLC6A9 Rebecca Foulger Gene: slc6a9 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v2.66 MAGEL2 Rebecca Foulger Publications for gene: MAGEL2 were set to
Arthrogryposis v2.65 MAGEL2 Rebecca Foulger commented on gene: MAGEL2: G2P phenotype is 'ARTHROGRYPOSIS MULTIPLEX CONGENITA' with 'probable' disease confidence, in addition to 'Schaaf-Yang syndrome' with confirmed confidence. G2P rating based on PMID:26365340 who report 2 families with lethal arthrogryposis in deceased fetuses and MAGEL2 variant. PMID:27195816 (Fountain et al., 2017) identified the same heterozygous c.1996delC variant in 2 fetal siblings with Shaaf-Yang syndrome manifesting as AMC. PMID:31504653 (Gregory et al., 2019) report 5 patients (4 families), 3 of whom had arthrogryposis and the Gln666SerfsTer36 MAGEL2 variant. Additional papers reporting arthrogryposis as part of Schaaf-Yang syndrome E.g. PMID:29359444 so likely to be the same condition with variable severity/phenotype. Sufficient cases of arthrogryposis in the literature for a Green rating on Arthrogryposis panel.
Arthrogryposis v2.65 SLC6A9 Rebecca Foulger Publications for gene: SLC6A9 were set to
Arthrogryposis v2.64 SLC6A9 Rebecca Foulger commented on gene: SLC6A9: Gene2Phenotype phenotype of 'Glycine Encephalopathy with Arthrogryposis' with 'probable' disease confidence based on PMID:27773429 (Kurolap et al., 2016) who report 4 individuals from 2 Arab-Muslim families with arthrogryposis amongst their symptoms. In addition, PMID:27481395 (Alfadhel et al., 2016) report a consanguineous family with one child who presented with non-ketotic hyperglycinemia and a homozygous missense variant in SLC6A9 (p.Ser407Gly). Features included joint laxity but Arthrogryposis isn't mentioned specifically.
Arthrogryposis v2.64 SLC6A9 Rebecca Foulger changed review comment from: Added to Arthrogryposis panel after agreement with Zerin Hyder (Genomics England Clinical Team), based on Arthrogryposis phenotye on DDG2P panel V1.154.; to: Added to Arthrogryposis panel after agreement with Zerin Hyder (Genomics England Clinical Team), based on Arthrogryposis phenotype on DDG2P panel V1.154.
Arthrogryposis v2.64 VAMP1 Rebecca Foulger reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arthrogryposis v2.64 MYL1 Rebecca Foulger reviewed gene: MYL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arthrogryposis v2.64 SMN1 Rebecca Foulger reviewed gene: SMN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arthrogryposis v2.64 GFM2 Rebecca Foulger reviewed gene: GFM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arthrogryposis v2.64 CACNA1E Rebecca Foulger reviewed gene: CACNA1E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arthrogryposis v2.64 CCDC47 Rebecca Foulger reviewed gene: CCDC47: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arthrogryposis v2.64 PIGS Rebecca Foulger reviewed gene: PIGS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arthrogryposis v2.64 EXOSC9 Rebecca Foulger reviewed gene: EXOSC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arthrogryposis v2.64 ATAD1 Rebecca Foulger reviewed gene: ATAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arthrogryposis v2.64 TBCD Rebecca Foulger reviewed gene: TBCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arthrogryposis v2.64 TRIP4 Rebecca Foulger reviewed gene: TRIP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arthrogryposis v2.64 ERCC5 Rebecca Foulger reviewed gene: ERCC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arthrogryposis v2.64 KIF5C Rebecca Foulger reviewed gene: KIF5C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arthrogryposis v2.64 C12orf65 Rebecca Foulger reviewed gene: C12orf65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arthrogryposis v2.64 CHMP1A Rebecca Foulger reviewed gene: CHMP1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arthrogryposis v2.64 ERCC1 Rebecca Foulger reviewed gene: ERCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arthrogryposis v2.64 CEP55 Rebecca Foulger reviewed gene: CEP55: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arthrogryposis v2.64 DHCR24 Rebecca Foulger reviewed gene: DHCR24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arthrogryposis v2.64 ALG3 Rebecca Foulger reviewed gene: ALG3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arthrogryposis v2.64 ZNF335 Rebecca Foulger reviewed gene: ZNF335: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arthrogryposis v2.64 SLC6A9 Rebecca Foulger reviewed gene: SLC6A9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arthrogryposis v2.64 MAGEL2 Rebecca Foulger reviewed gene: MAGEL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arthrogryposis v2.63 VAMP1 Rebecca Foulger gene: VAMP1 was added
gene: VAMP1 was added to Arthrogryposis. Sources: Other,Expert Review Green
Mode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VAMP1 were set to 28168212; 28253535
Phenotypes for gene: VAMP1 were set to presynaptic CMS; Congenital myasthenic syndrome
Arthrogryposis v2.63 MYL1 Rebecca Foulger gene: MYL1 was added
gene: MYL1 was added to Arthrogryposis. Sources: Other,Expert Review Green
Mode of inheritance for gene: MYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYL1 were set to congenital myopathy
Arthrogryposis v2.62 SMN1 Rebecca Foulger gene: SMN1 was added
gene: SMN1 was added to Arthrogryposis. Sources: Literature,Expert Review Green
Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMN1 were set to 27911332; 10700538; 11826188
Phenotypes for gene: SMN1 were set to arthrogryposis; SMA 0
Arthrogryposis v2.62 GFM2 Rebecca Foulger gene: GFM2 was added
gene: GFM2 was added to Arthrogryposis. Sources: Literature,Expert Review Green
Mode of inheritance for gene: GFM2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: GFM2 were set to 30343943
Phenotypes for gene: GFM2 were set to Epileptic encephalopathy, early infantile, 69
Arthrogryposis v2.62 CACNA1E Rebecca Foulger gene: CACNA1E was added
gene: CACNA1E was added to Arthrogryposis. Sources: Expert Review Red
Mode of inheritance for gene: CACNA1E was set to
Arthrogryposis v2.62 CCDC47 Rebecca Foulger gene: CCDC47 was added
gene: CCDC47 was added to Arthrogryposis. Sources: Expert Review Red
Mode of inheritance for gene: CCDC47 was set to
Arthrogryposis v2.62 PIGS Rebecca Foulger gene: PIGS was added
gene: PIGS was added to Arthrogryposis. Sources: Expert Review Red
Mode of inheritance for gene: PIGS was set to
Arthrogryposis v2.62 EXOSC9 Rebecca Foulger gene: EXOSC9 was added
gene: EXOSC9 was added to Arthrogryposis. Sources: Expert Review Red
Mode of inheritance for gene: EXOSC9 was set to
Arthrogryposis v2.62 ATAD1 Rebecca Foulger gene: ATAD1 was added
gene: ATAD1 was added to Arthrogryposis. Sources: Literature,Expert Review Green
Mode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATAD1 were set to 29659736; 28180185; 29390050
Phenotypes for gene: ATAD1 were set to Hyperekplexia 4
Arthrogryposis v2.62 SLC6A9 Rebecca Foulger Source Expert Review Red was added to SLC6A9.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Arthrogryposis v2.62 TBCD Rebecca Foulger gene: TBCD was added
gene: TBCD was added to Arthrogryposis. Sources: Expert Review Red
Mode of inheritance for gene: TBCD was set to
Arthrogryposis v2.62 TRIP4 Rebecca Foulger gene: TRIP4 was added
gene: TRIP4 was added to Arthrogryposis. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: TRIP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIP4 were set to 26924529
Phenotypes for gene: TRIP4 were set to Spinal muscular atrophy with congenital bone fractures 1
Arthrogryposis v2.62 ERCC5 Rebecca Foulger gene: ERCC5 was added
gene: ERCC5 was added to Arthrogryposis. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC5 were set to 9096355; 24700531
Phenotypes for gene: ERCC5 were set to Cerebrooculofacioskeletal syndrome 3
Arthrogryposis v2.62 KIF5C Rebecca Foulger gene: KIF5C was added
gene: KIF5C was added to Arthrogryposis. Sources: Expert Review Red
Mode of inheritance for gene: KIF5C was set to
Arthrogryposis v2.62 C12orf65 Rebecca Foulger gene: C12orf65 was added
gene: C12orf65 was added to Arthrogryposis. Sources: Expert Review Red
Mode of inheritance for gene: C12orf65 was set to
Arthrogryposis v2.62 CHMP1A Rebecca Foulger gene: CHMP1A was added
gene: CHMP1A was added to Arthrogryposis. Sources: Expert Review Red
Mode of inheritance for gene: CHMP1A was set to
Arthrogryposis v2.62 ERCC1 Rebecca Foulger gene: ERCC1 was added
gene: ERCC1 was added to Arthrogryposis. Sources: Literature,Expert Review Red
Mode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC1 were set to 17273966; 23623389
Phenotypes for gene: ERCC1 were set to Cerebrooculofacioskeletal syndrome 4
Arthrogryposis v2.62 CEP55 Rebecca Foulger gene: CEP55 was added
gene: CEP55 was added to Arthrogryposis. Sources: Literature,Expert Review Red
Mode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP55 were set to 28264986; 30622327
Phenotypes for gene: CEP55 were set to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
Arthrogryposis v2.62 DHCR24 Rebecca Foulger gene: DHCR24 was added
gene: DHCR24 was added to Arthrogryposis. Sources: Literature,Expert Review Green
Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR24 were set to 21559050; 21671375; 12457401; 29175559
Phenotypes for gene: DHCR24 were set to dermosterolsis
Arthrogryposis v2.62 ALG3 Rebecca Foulger gene: ALG3 was added
gene: ALG3 was added to Arthrogryposis. Sources: Literature,Expert Review Green
Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG3 were set to 26453362; 28742265; 16006436
Phenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id
Arthrogryposis v2.62 ZNF335 Rebecca Foulger gene: ZNF335 was added
gene: ZNF335 was added to Arthrogryposis. Sources: Literature,Expert Review Red
Mode of inheritance for gene: ZNF335 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF335 were set to 23178126
Phenotypes for gene: ZNF335 were set to Microcephaly 10, primary, autosomal recessive
Arthrogryposis v2.62 SLC6A9 Rebecca Foulger gene: SLC6A9 was added
gene: SLC6A9 was added to Arthrogryposis. Sources: Literature,Other,Expert Review Green
Mode of inheritance for gene: SLC6A9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A9 were set to Glycine encephalopathy with normal serum glycine, 617301; Glycine Encephalopathy with Arthrogryposis
Arthrogryposis v2.62 MAGEL2 Rebecca Foulger gene: MAGEL2 was added
gene: MAGEL2 was added to Arthrogryposis. Sources: Literature,Other,Expert Review Green
Mode of inheritance for gene: MAGEL2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes for gene: MAGEL2 were set to Schaaf-Yang syndrome, 615547; ARTHROGRYPOSIS MULTIPLEX CONGENITA
Arthrogryposis v2.61 STIM1 Rebecca Foulger Classified gene: STIM1 as Green List (high evidence)
Arthrogryposis v2.61 STIM1 Rebecca Foulger Gene: stim1 has been classified as Green List (High Evidence).
Arthrogryposis v2.60 STIM1 Rebecca Foulger commented on gene: STIM1
Arthrogryposis v2.60 ORAI1 Rebecca Foulger Mode of inheritance for gene: ORAI1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Arthrogryposis v2.59 ORAI1 Rebecca Foulger Classified gene: ORAI1 as Green List (high evidence)
Arthrogryposis v2.59 ORAI1 Rebecca Foulger Gene: orai1 has been classified as Green List (High Evidence).
Arthrogryposis v2.58 ORAI1 Rebecca Foulger commented on gene: ORAI1
Arthrogryposis v2.58 STAC3 Rebecca Foulger commented on gene: STAC3: Although the variants were originally only reported from the same population (Lumbee Indian tribe), PMID:28777491 (Telegrafi et al., 2017) report the W284S homozygous variant in a child born of consanguineous parents from Qatar, and in a compound het state in 2 siblings from Puerto Rico. This demonstrates that this variant is not restricted to the Native American population and I have therefore removed the 'founder-effect' tag.
Arthrogryposis v2.58 STAC3 Rebecca Foulger Tag founder-effect was removed from gene: STAC3.
Arthrogryposis v2.58 STAC3 Rebecca Foulger Classified gene: STAC3 as Green List (high evidence)
Arthrogryposis v2.58 STAC3 Rebecca Foulger Gene: stac3 has been classified as Green List (High Evidence).
Arthrogryposis v2.57 STAC3 Rebecca Foulger commented on gene: STAC3
Arthrogryposis v2.57 DPAGT1 Rebecca Foulger changed review comment from: Comment on list classification: Updated DPAGT1 from Red to Green on advice from Zerin Hyder (Genomics England Clinical Team), and additional evidence from PMID: 26033833 and PMID:30653653.; to: Comment on list classification: Updated DPAGT1 from Red to Green on advice from Zerin Hyder (Genomics England Clinical Team), and additional evidence from PMID: 26033833 and PMID:30653653. DPAGT1 is also Green on the 'Neuromuscular arthrogryposis' v0.21 panel.
Arthrogryposis v2.57 LMNA Rebecca Foulger Classified gene: LMNA as Red List (low evidence)
Arthrogryposis v2.57 LMNA Rebecca Foulger Added comment: Comment on list classification: Kept rating of LMNA as Red based on advice from Zerin Hyder (Genomics England Clinical Team).
Arthrogryposis v2.57 LMNA Rebecca Foulger Gene: lmna has been classified as Red List (Low Evidence).
Arthrogryposis v2.56 DPAGT1 Rebecca Foulger Classified gene: DPAGT1 as Green List (high evidence)
Arthrogryposis v2.56 DPAGT1 Rebecca Foulger Added comment: Comment on list classification: Updated DPAGT1 from Red to Green on advice from Zerin Hyder (Genomics England Clinical Team), and additional evidence from PMID: 26033833 and PMID:30653653.
Arthrogryposis v2.56 DPAGT1 Rebecca Foulger Gene: dpagt1 has been classified as Green List (High Evidence).
Arthrogryposis v2.55 DPAGT1 Rebecca Foulger Phenotypes for gene: DPAGT1 were changed from Congenital disorder of glycosylation, type Ij, 608093Myasthenic syndrome, congenital, with tubular aggregates 2, 614750 to Congenital disorder of glycosylation, type Ij, 608093; Myasthenic syndrome, congenital, with tubular aggregates 2, 614750
Arthrogryposis v2.54 DPAGT1 Rebecca Foulger Publications for gene: DPAGT1 were set to
Arthrogryposis v2.53 LMNA Rebecca Foulger Publications for gene: LMNA were set to
Arthrogryposis v2.52 TTN Rebecca Foulger Classified gene: TTN as Green List (high evidence)
Arthrogryposis v2.52 TTN Rebecca Foulger Gene: ttn has been classified as Green List (High Evidence).
Arthrogryposis v2.51 TTN Rebecca Foulger Mode of inheritance for gene: TTN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v2.50 TTN Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'BOTH monoallelic and biallelic' to 'BIALLELIC' to match MOI on 'Neuromuscular arthrogryposis' panel V0.21 and review on DDG2P panel by Lucy Raymond.
Arthrogryposis v2.50 TTN Rebecca Foulger Mode of inheritance for gene: TTN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v2.49 TTN Rebecca Foulger Phenotypes for gene: TTN were changed from Hereditary Myopathy with Early Respiratory Failure; Cardiomyopathy, familial hypertrophic, 9, 613765; Hereditary Myopathy with Early Respiratory Failure (dominant); Udd Distal Myopathy (Dominant); Salih Myopathy (recessive); core myopathy with heart disease to Congenital titinopathy with arthrogryposis; Hereditary Myopathy with Early Respiratory Failure; Cardiomyopathy, familial hypertrophic, 9, 613765; Hereditary Myopathy with Early Respiratory Failure (dominant); Udd Distal Myopathy (Dominant); Salih Myopathy (recessive); core myopathy with heart disease
Arthrogryposis v2.48 TTN Rebecca Foulger Publications for gene: TTN were set to 24105469
Arthrogryposis v2.47 TTN Rebecca Foulger commented on gene: TTN
Arthrogryposis v2.47 Ellen McDonagh Panel types changed to Rare Disease 100K; Component Of Super Panel
Arthrogryposis v2.46 ZC4H2 Louise Daugherty Added comment: Comment on mode of inheritance: MOI changed to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' as some female carriers also show signs of disease.
Arthrogryposis v2.46 ZC4H2 Louise Daugherty Mode of inheritance for gene: ZC4H2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Arthrogryposis v2.45 SMPD4 Louise Daugherty changed review comment from: Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases, and external review comment all support gene-disease association.; to: Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases support gene-disease association.
Arthrogryposis v2.45 SMPD4 Louise Daugherty changed review comment from: Comment on publications: Publication Magini P et al. (October 2019) Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.; to: Comment on publications: Magini P et al. (October 2019) Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Arthrogryposis v2.45 SMPD4 Louise Daugherty Classified gene: SMPD4 as Green List (high evidence)
Arthrogryposis v2.45 SMPD4 Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases, and external review comment all support gene-disease association.
Arthrogryposis v2.45 SMPD4 Louise Daugherty Gene: smpd4 has been classified as Green List (High Evidence).
Arthrogryposis v2.44 SMPD4 Louise Daugherty Tag watchlist was removed from gene: SMPD4.
Arthrogryposis v2.44 SMPD4 Louise Daugherty Added comment: Comment on publications: Publication Magini P et al. (October 2019) Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Arthrogryposis v2.44 SMPD4 Louise Daugherty Publications for gene: SMPD4 were set to
Arthrogryposis v2.43 GARS Louise Daugherty Tag new-gene-name tag was added to gene: GARS.
Arthrogryposis v2.43 GARS Louise Daugherty commented on gene: GARS
Arthrogryposis v2.41 DOK7 Louise Daugherty Phenotypes for gene: DOK7 were changed from Myasthenia, limb-girdle, familial, 254300Fetal akinesia deformation sequence, 208150 to Myasthenia, limb-girdle, familial, 254300; Fetal akinesia deformation sequence, 208150
Arthrogryposis v2.40 ASCC1 Louise Daugherty Classified gene: ASCC1 as Green List (high evidence)
Arthrogryposis v2.40 ASCC1 Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team: appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene to Green.
Arthrogryposis v2.40 ASCC1 Louise Daugherty Gene: ascc1 has been classified as Green List (High Evidence).
Arthrogryposis v2.39 ASCC1 Louise Daugherty Phenotypes for gene: ASCC1 were changed from spinal muscular atrophy; arthrogryposis; fetal akinesia; hypotonia; contractures to Spinal muscular atrophy with congenital bone fractures 2, 616867; Spinal muscular atrophy; arthrogryposis; fetal akinesia; hypotonia; contractures
Arthrogryposis v2.38 ASCC1 Louise Daugherty Publications for gene: ASCC1 were set to PMID: 26924529; 30327447; 28749478
Arthrogryposis v2.37 ASCC1 Julia Baptista gene: ASCC1 was added
gene: ASCC1 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCC1 were set to PMID: 26924529; 30327447; 28749478
Phenotypes for gene: ASCC1 were set to spinal muscular atrophy; arthrogryposis; fetal akinesia; hypotonia; contractures
Review for gene: ASCC1 was set to GREEN
gene: ASCC1 was marked as current diagnostic
Added comment: Homozygous frameshift variant reported in two siblings from a Turkish family and one child from a Portuguese family affected with fetal akinesia, arthrogryposis, hypotonia, muscle weakness and congenital bone fractures. One further family reported with fetal akinesia and a homozygous splicing variant.
Sources: Literature
Arthrogryposis v2.37 ISPD Louise Daugherty commented on gene: ISPD
Arthrogryposis v2.37 ISPD Louise Daugherty Tag new-gene-name tag was added to gene: ISPD.
Arthrogryposis v2.37 STAC3 Louise Daugherty Phenotypes for gene: STAC3 were changed from Native American myopathy, 255995 (3) to Myopathy, congenital, Baily-Bloch, 255995
Arthrogryposis v2.36 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel
Arthrogryposis v2.35 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease
Arthrogryposis v2.33 COASY Louise Daugherty Classified gene: COASY as Amber List (moderate evidence)
Arthrogryposis v2.33 COASY Louise Daugherty Added comment: Comment on list classification: New gene. Rated Amber until more cases on gene and disease association are reported.
Arthrogryposis v2.33 COASY Louise Daugherty Gene: coasy has been classified as Amber List (Moderate Evidence).
Arthrogryposis v2.32 COASY Louise Daugherty commented on gene: COASY: added watchlist tag
Arthrogryposis v2.32 COASY Louise Daugherty gene: COASY was added
gene: COASY was added to Arthrogryposis. Sources: Literature
watchlist tags were added to gene: COASY.
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COASY were set to 30089828; 24360804
Phenotypes for gene: COASY were set to Severe prenatal onset pontocerebellar hypoplasia, microcephaly, arthrogryposis
Review for gene: COASY was set to AMBER
Added comment: From Dijk et al. (2018) PMID: 30089828 variants in the gene Coenzyme A (CoA) synthase (COASY) gene, an enzyme essential in CoA synthesis. A single variant was identified in 4 individuals in 2 unrelated families with PCH, prenatal onset microcephaly, and arthrogryposis. In both families, the variant c.[1549_1550delAG]; [1486-3 C>G] segregated wth the phenotype. No CoA synthase protein was detected in patient cells by immunoblot analysis and CoA synthase activity was virtually absent. Partial CoA synthase defects were previously described by Dusi et al. (2014) PMID: 24360804 as a cause of COASY Protein-Associated Neurodegeneration (CoPAN), a type of Neurodegeneration and Brain Iron Accumulation (MIM: 615643). Dijk et al. (2018) PMID: 30089828 demonstrate that near complete loss of function variants in COASY are associated with lethal PCH and arthrogryposis.
Sources: Literature
Arthrogryposis v2.31 Ellen McDonagh Panel types changed to Rare Disease 100K
Arthrogryposis v2.30 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Arthrogryposis v2.29 SMPD4 Louise Daugherty Classified gene: SMPD4 as Amber List (moderate evidence)
Arthrogryposis v2.29 SMPD4 Louise Daugherty Gene: smpd4 has been classified as Amber List (Moderate Evidence).
Arthrogryposis SMPD4 Arianna Tucci Added gene to panel
Arthrogryposis TMEM5 Louise Daugherty commented on TMEM5
Arthrogryposis KIAA1109 Sarah Leigh classified KIAA1109 as Green List (high evidence)
Arthrogryposis KIAA1109 Sarah Leigh Added gene to panel
Arthrogryposis STIM1 Sarah Leigh marked STIM1 as ready
Arthrogryposis TMEM8C Sarah Leigh classified TMEM8C as green
Arthrogryposis TMEM8C Sarah Leigh added TMEM8C to panel
Arthrogryposis TMEM8C Sarah Leigh reviewed TMEM8C
Arthrogryposis LGI4 Louise Daugherty classified LGI4 as green
Arthrogryposis LGI4 Louise Daugherty added LGI4 to panel
Arthrogryposis LGI4 Louise Daugherty reviewed LGI4
Arthrogryposis BICD2 Andrea Haworth reviewed BICD2
Arthrogryposis SCN4A Ellen McDonagh classified SCN4A as green
Arthrogryposis SCN4A Ellen McDonagh commented on SCN4A
Arthrogryposis VPS8 Ellen McDonagh classified VPS8 as red
Arthrogryposis VPS8 Ellen McDonagh added VPS8 to panel
Arthrogryposis VPS8 Ellen McDonagh reviewed VPS8
Arthrogryposis PSD3 Ellen McDonagh added PSD3 to panel
Arthrogryposis PSD3 Ellen McDonagh reviewed PSD3
Arthrogryposis MYO9A Ellen McDonagh classified MYO9A as red
Arthrogryposis MYO9A Ellen McDonagh classified MYO9A as red
Arthrogryposis MYO9A Ellen McDonagh added MYO9A to panel
Arthrogryposis MYO9A Ellen McDonagh reviewed MYO9A
Arthrogryposis ANXA3 Sarah Leigh added ANXA3 to panel
Arthrogryposis ANXA3 Sarah Leigh reviewed ANXA3
Arthrogryposis Ellen McDonagh promoted panel to version 2
Arthrogryposis MYH7 Alice Gardham classified MYH7 as green
Arthrogryposis DNM2 Alice Gardham classified DNM2 as green
Arthrogryposis SMAD4 Alice Gardham marked SMAD4 as ready
Arthrogryposis SMAD4 Alice Gardham classified SMAD4 as green
Arthrogryposis ADAMTS10 Alice Gardham marked ADAMTS10 as ready
Arthrogryposis ADAMTS10 Alice Gardham classified ADAMTS10 as green
Arthrogryposis SKI Alice Gardham marked SKI as ready
Arthrogryposis SKI Alice Gardham classified SKI as green
Arthrogryposis SKI Alice Gardham reviewed SKI
Arthrogryposis STIM1 Alice Gardham marked STIM1 as ready
Arthrogryposis ORAI1 Alice Gardham marked ORAI1 as ready
Arthrogryposis Antonio Rueda approved panel
Arthrogryposis PIP5K1C Ellen McDonagh marked PIP5K1C as ready
Arthrogryposis PIP5K1C Ellen McDonagh classified PIP5K1C as amber
Arthrogryposis PIP5K1C Ellen McDonagh commented on PIP5K1C
Arthrogryposis ERBB3 Ellen McDonagh marked ERBB3 as ready
Arthrogryposis ERBB3 Ellen McDonagh commented on ERBB3
Arthrogryposis ERBB3 Ellen McDonagh classified ERBB3 as amber
Arthrogryposis SMAD4 Alice Gardham added SMAD4 to panel
Arthrogryposis SMAD4 Alice Gardham reviewed SMAD4
Arthrogryposis ADAMTS10 Alice Gardham added ADAMTS10 to panel
Arthrogryposis ADAMTS10 Alice Gardham reviewed ADAMTS10
Arthrogryposis PEX26 Alice Gardham marked PEX26 as ready
Arthrogryposis PEX26 Alice Gardham added PEX26 to panel
Arthrogryposis PEX26 Alice Gardham reviewed PEX26
Arthrogryposis PEX19 Alice Gardham marked PEX19 as ready
Arthrogryposis PEX19 Alice Gardham added PEX19 to panel
Arthrogryposis PEX19 Alice Gardham reviewed PEX19
Arthrogryposis PEX16 Alice Gardham marked PEX16 as ready
Arthrogryposis PEX16 Alice Gardham added PEX16 to panel
Arthrogryposis PEX16 Alice Gardham reviewed PEX16
Arthrogryposis PEX14 Alice Gardham marked PEX14 as ready
Arthrogryposis PEX14 Alice Gardham added PEX14 to panel
Arthrogryposis PEX14 Alice Gardham reviewed PEX14
Arthrogryposis PEX13 Alice Gardham marked PEX13 as ready
Arthrogryposis PEX13 Alice Gardham added PEX13 to panel
Arthrogryposis PEX13 Alice Gardham reviewed PEX13
Arthrogryposis PEX12 Alice Gardham marked PEX12 as ready
Arthrogryposis PEX12 Alice Gardham added PEX12 to panel
Arthrogryposis PEX12 Alice Gardham reviewed PEX12
Arthrogryposis PEX11B Alice Gardham marked PEX11B as ready
Arthrogryposis PEX11B Alice Gardham classified PEX11B as green
Arthrogryposis PEX11B Alice Gardham added PEX11B to panel
Arthrogryposis PEX11B Alice Gardham reviewed PEX11B
Arthrogryposis PEX10 Alice Gardham marked PEX10 as ready
Arthrogryposis PEX10 Alice Gardham added PEX10 to panel
Arthrogryposis PEX10 Alice Gardham reviewed PEX10
Arthrogryposis PEX5 Alice Gardham marked PEX5 as ready
Arthrogryposis PEX5 Alice Gardham added PEX5 to panel
Arthrogryposis PEX5 Alice Gardham reviewed PEX5
Arthrogryposis PEX3 Alice Gardham marked PEX3 as ready
Arthrogryposis PEX6 Alice Gardham marked PEX6 as ready
Arthrogryposis PEX6 Alice Gardham added PEX6 to panel
Arthrogryposis PEX6 Alice Gardham reviewed PEX6
Arthrogryposis PEX3 Alice Gardham added PEX3 to panel
Arthrogryposis PEX3 Alice Gardham reviewed PEX3
Arthrogryposis PEX2 Alice Gardham marked PEX2 as ready
Arthrogryposis PEX2 Alice Gardham added PEX2 to panel
Arthrogryposis PEX2 Alice Gardham reviewed PEX2
Arthrogryposis PEX1 Alice Gardham marked PEX1 as ready
Arthrogryposis PEX1 Alice Gardham added PEX1 to panel
Arthrogryposis PEX1 Alice Gardham reviewed PEX1
Arthrogryposis PLOD1 Alice Gardham marked PLOD1 as ready
Arthrogryposis PLOD1 Alice Gardham added PLOD1 to panel
Arthrogryposis PLOD1 Alice Gardham reviewed PLOD1
Arthrogryposis POR Alice Gardham marked POR as ready
Arthrogryposis POR Alice Gardham added POR to panel
Arthrogryposis POR Alice Gardham reviewed POR
Arthrogryposis SLC5A7 Alice Gardham marked SLC5A7 as ready
Arthrogryposis SLC5A7 Alice Gardham classified SLC5A7 as green
Arthrogryposis SLC5A7 Alice Gardham added SLC5A7 to panel
Arthrogryposis SLC5A7 Alice Gardham reviewed SLC5A7
Arthrogryposis SCARF2 Alice Gardham marked SCARF2 as ready
Arthrogryposis SCARF2 Alice Gardham classified SCARF2 as green
Arthrogryposis SCARF2 Alice Gardham added SCARF2 to panel
Arthrogryposis SCARF2 Alice Gardham reviewed SCARF2
Arthrogryposis ASXL1 Alice Gardham marked ASXL1 as ready
Arthrogryposis ASXL1 Alice Gardham classified ASXL1 as green
Arthrogryposis ASXL1 Alice Gardham reviewed ASXL1
Arthrogryposis TMEM5 Alice Gardham classified TMEM5 as green
Arthrogryposis POMT2 Alice Gardham classified POMT2 as green
Arthrogryposis POMT1 Alice Gardham classified POMT1 as green
Arthrogryposis POMK Alice Gardham classified POMK as green
Arthrogryposis POMGNT2 Alice Gardham classified POMGNT2 as green
Arthrogryposis POMGNT1 Alice Gardham classified POMGNT1 as green
Arthrogryposis LARGE Alice Gardham classified LARGE as green
Arthrogryposis ISPD Alice Gardham classified ISPD as green
Arthrogryposis GMPPB Alice Gardham classified GMPPB as green
Arthrogryposis FKTN Alice Gardham classified FKTN as green
Arthrogryposis FKRP Alice Gardham classified FKRP as green
Arthrogryposis FKRP Alice Gardham classified FKRP as amber
Arthrogryposis DAG1 Alice Gardham classified DAG1 as green
Arthrogryposis B4GAT1 Alice Gardham classified B4GAT1 as green
Arthrogryposis B3GALNT2 Alice Gardham classified B3GALNT2 as green
Arthrogryposis FLNB Alice Gardham classified FLNB as green
Arthrogryposis KLHL7 Alice Gardham marked KLHL7 as ready
Arthrogryposis KLHL7 Alice Gardham classified KLHL7 as green
Arthrogryposis MYH7 Alice Gardham marked MYH7 as ready
Arthrogryposis DMPK Alice Gardham marked DMPK as ready
Arthrogryposis DMPK Alice Gardham classified DMPK as red
Arthrogryposis DMPK Alice Gardham added DMPK to panel
Arthrogryposis DMPK Alice Gardham reviewed DMPK
Arthrogryposis PEX7 Alice Gardham marked PEX7 as ready
Arthrogryposis PEX7 Alice Gardham added PEX7 to panel
Arthrogryposis PEX7 Alice Gardham reviewed PEX7
Arthrogryposis KAT6B Alice Gardham marked KAT6B as ready
Arthrogryposis KAT6B Alice Gardham added KAT6B to panel
Arthrogryposis KAT6B Alice Gardham reviewed KAT6B
Arthrogryposis FGFR3 Alice Gardham marked FGFR3 as ready
Arthrogryposis FGFR3 Alice Gardham classified FGFR3 as green
Arthrogryposis FGFR3 Alice Gardham added FGFR3 to panel
Arthrogryposis FGFR3 Alice Gardham reviewed FGFR3
Arthrogryposis ERCC8 Alice Gardham marked ERCC8 as ready
Arthrogryposis ERCC8 Alice Gardham classified ERCC8 as green
Arthrogryposis ERCC8 Alice Gardham added ERCC8 to panel
Arthrogryposis ERCC8 Alice Gardham reviewed ERCC8
Arthrogryposis SMAD3 Alice Gardham marked SMAD3 as ready
Arthrogryposis PRG4 Alice Gardham marked PRG4 as ready
Arthrogryposis PRG4 Alice Gardham classified PRG4 as green
Arthrogryposis PRG4 Alice Gardham added PRG4 to panel
Arthrogryposis PRG4 Alice Gardham reviewed PRG4
Arthrogryposis ANTXR2 Alice Gardham marked ANTXR2 as ready
Arthrogryposis ANTXR2 Alice Gardham classified ANTXR2 as green
Arthrogryposis ANTXR2 Alice Gardham added ANTXR2 to panel
Arthrogryposis ANTXR2 Alice Gardham reviewed ANTXR2
Arthrogryposis IRF6 Alice Gardham marked IRF6 as ready
Arthrogryposis IRF6 Alice Gardham reviewed IRF6
Arthrogryposis RIPK4 Alice Gardham marked RIPK4 as ready
Arthrogryposis RIPK4 Alice Gardham classified RIPK4 as green
Arthrogryposis RIPK4 Alice Gardham reviewed RIPK4
Arthrogryposis PFKM Alice Gardham classified PFKM as green
Arthrogryposis PFKM Alice Gardham classified PFKM as green
Arthrogryposis SMAD3 Alice Gardham added SMAD3 to panel
Arthrogryposis SMAD3 Alice Gardham reviewed SMAD3
Arthrogryposis TGFB2 Alice Gardham marked TGFB2 as ready
Arthrogryposis TGFB2 Alice Gardham added TGFB2 to panel
Arthrogryposis TGFB2 Alice Gardham reviewed TGFB2
Arthrogryposis TGFB3 Alice Gardham marked TGFB3 as ready
Arthrogryposis TGFB3 Alice Gardham classified TGFB3 as green
Arthrogryposis TGFB3 Alice Gardham added TGFB3 to panel
Arthrogryposis TGFB3 Alice Gardham reviewed TGFB3
Arthrogryposis GLDN Alice Gardham marked GLDN as ready
Arthrogryposis GLDN Alice Gardham classified GLDN as green
Arthrogryposis GLDN Alice Gardham added GLDN to panel
Arthrogryposis GLDN Alice Gardham reviewed GLDN
Arthrogryposis ADCY6 Alice Gardham marked ADCY6 as ready
Arthrogryposis ADCY6 Alice Gardham added ADCY6 to panel
Arthrogryposis ADCY6 Alice Gardham reviewed ADCY6
Arthrogryposis CNTNAP1 Alice Gardham marked CNTNAP1 as ready
Arthrogryposis CNTNAP1 Alice Gardham classified CNTNAP1 as green
Arthrogryposis CNTNAP1 Alice Gardham added CNTNAP1 to panel
Arthrogryposis CNTNAP1 Alice Gardham reviewed CNTNAP1
Arthrogryposis ADGRG6 Alice Gardham marked ADGRG6 as ready
Arthrogryposis ADGRG6 Alice Gardham classified ADGRG6 as green
Arthrogryposis ADGRG6 Alice Gardham added ADGRG6 to panel
Arthrogryposis ADGRG6 Alice Gardham reviewed ADGRG6
Arthrogryposis PI4KA Alice Gardham marked PI4KA as ready
Arthrogryposis PI4KA Alice Gardham added PI4KA to panel
Arthrogryposis PI4KA Alice Gardham reviewed PI4KA
Arthrogryposis NEK9 Alice Gardham marked NEK9 as ready
Arthrogryposis NEK9 Alice Gardham added NEK9 to panel
Arthrogryposis NEK9 Alice Gardham reviewed NEK9
Arthrogryposis IBA57 Alice Gardham marked IBA57 as ready
Arthrogryposis LDB3 Alice Gardham marked LDB3 as ready
Arthrogryposis TGFBR2 Alice Gardham marked TGFBR2 as ready
Arthrogryposis TGFBR2 Alice Gardham reviewed TGFBR2
Arthrogryposis TGFBR1 Alice Gardham marked TGFBR1 as ready
Arthrogryposis TGFBR1 Alice Gardham reviewed TGFBR1
Arthrogryposis SYT2 Alice Gardham marked SYT2 as ready
Arthrogryposis SYT2 Alice Gardham commented on SYT2
Arthrogryposis STIM2 Alice Gardham marked STIM2 as ready
Arthrogryposis STIM2 Alice Gardham commented on STIM2
Arthrogryposis SMCHD1 Alice Gardham marked SMCHD1 as ready
Arthrogryposis SMCHD1 Alice Gardham commented on SMCHD1
Arthrogryposis POMK Alice Gardham marked POMK as ready
Arthrogryposis POMK Alice Gardham commented on POMK
Arthrogryposis MYH14 Alice Gardham marked MYH14 as ready
Arthrogryposis MYH14 Alice Gardham commented on MYH14
Arthrogryposis MTMR1 Alice Gardham marked MTMR1 as ready
Arthrogryposis MTMR1 Alice Gardham commented on MTMR1
Arthrogryposis MT-TL1 Alice Gardham marked MT-TL1 as ready
Arthrogryposis MT-TL1 Alice Gardham commented on MT-TL1
Arthrogryposis MPZ Alice Gardham marked MPZ as ready
Arthrogryposis MPZ Alice Gardham reviewed MPZ
Arthrogryposis MICU1 Alice Gardham marked MICU1 as ready
Arthrogryposis MICU1 Alice Gardham commented on MICU1
Arthrogryposis MFN2 Alice Gardham marked MFN2 as ready
Arthrogryposis MFN2 Alice Gardham commented on MFN2
Arthrogryposis LPIN1 Alice Gardham marked LPIN1 as ready
Arthrogryposis LPIN1 Alice Gardham commented on LPIN1
Arthrogryposis KLHL7 Alice Gardham classified KLHL7 as amber
Arthrogryposis KLHL7 Alice Gardham reviewed KLHL7
Arthrogryposis ISCU Alice Gardham marked ISCU as ready
Arthrogryposis ISCU Alice Gardham commented on ISCU
Arthrogryposis IGHMBP2 Alice Gardham marked IGHMBP2 as ready
Arthrogryposis IGHMBP2 Alice Gardham reviewed IGHMBP2
Arthrogryposis IBA57 Alice Gardham reviewed IBA57
Arthrogryposis GMPPB Alice Gardham marked GMPPB as ready
Arthrogryposis GMPPB Alice Gardham commented on GMPPB
Arthrogryposis GFER Alice Gardham marked GFER as ready
Arthrogryposis GFER Alice Gardham commented on GFER
Arthrogryposis GDAP1 Alice Gardham marked GDAP1 as ready
Arthrogryposis GDAP1 Alice Gardham commented on GDAP1
Arthrogryposis GBE1 Alice Gardham marked GBE1 as ready
Arthrogryposis GBE1 Alice Gardham classified GBE1 as green
Arthrogryposis GBE1 Alice Gardham reviewed GBE1
Arthrogryposis HSPG2 Alice Gardham marked HSPG2 as ready
Arthrogryposis HSPG2 Alice Gardham edited their review of HSPG2
Arthrogryposis HSPG2 Alice Gardham reviewed HSPG2
Arthrogryposis HRAS Alice Gardham marked HRAS as ready
Arthrogryposis HRAS Alice Gardham commented on HRAS
Arthrogryposis HNRNPA1 Alice Gardham marked HNRNPA1 as ready
Arthrogryposis HNRNPA1 Alice Gardham commented on HNRNPA1
Arthrogryposis HADHB Alice Gardham marked HADHB as ready
Arthrogryposis HADHB Alice Gardham commented on HADHB
Arthrogryposis HADHA Alice Gardham marked HADHA as ready
Arthrogryposis HADHA Alice Gardham commented on HADHA
Arthrogryposis HADH Alice Gardham marked HADH as ready
Arthrogryposis HADH Alice Gardham commented on HADH
Arthrogryposis GRN Alice Gardham marked GRN as ready
Arthrogryposis GRN Alice Gardham commented on GRN
Arthrogryposis DPAGT1 Alice Gardham marked DPAGT1 as ready
Arthrogryposis DPAGT1 Alice Gardham classified DPAGT1 as red
Arthrogryposis GBA Alice Gardham marked GBA as ready
Arthrogryposis GBA Alice Gardham reviewed GBA
Arthrogryposis GARS Alice Gardham marked GARS as ready
Arthrogryposis GARS Alice Gardham commented on GARS
Arthrogryposis GAA Alice Gardham marked GAA as ready
Arthrogryposis GAA Alice Gardham commented on GAA
Arthrogryposis FLNC Alice Gardham marked FLNC as ready
Arthrogryposis FLNC Alice Gardham commented on FLNC
Arthrogryposis FLNB Alice Gardham marked FLNB as ready
Arthrogryposis FLNB Alice Gardham commented on FLNB
Arthrogryposis FKRP Alice Gardham marked FKRP as ready
Arthrogryposis FKBP14 Alice Gardham marked FKBP14 as ready
Arthrogryposis FKBP14 Alice Gardham commented on FKBP14
Arthrogryposis FKBP10 Alice Gardham marked FKBP10 as ready
Arthrogryposis FKBP10 Alice Gardham classified FKBP10 as green
Arthrogryposis FKBP10 Alice Gardham reviewed FKBP10
Arthrogryposis FHL1 Alice Gardham marked FHL1 as ready
Arthrogryposis FHL1 Alice Gardham commented on FHL1
Arthrogryposis FGFR2 Alice Gardham marked FGFR2 as ready
Arthrogryposis FGFR2 Alice Gardham classified FGFR2 as green
Arthrogryposis FGFR2 Alice Gardham reviewed FGFR2
Arthrogryposis FBN2 Alice Gardham marked FBN2 as ready
Arthrogryposis FBN2 Alice Gardham classified FBN2 as green
Arthrogryposis FBN2 Alice Gardham reviewed FBN2
Arthrogryposis FAM20C Alice Gardham marked FAM20C as ready
Arthrogryposis FAM20C Alice Gardham classified FAM20C as green
Arthrogryposis FAM20C Alice Gardham reviewed FAM20C
Arthrogryposis FAM111B Alice Gardham marked FAM111B as ready
Arthrogryposis FAM111B Alice Gardham reviewed FAM111B
Arthrogryposis EXOSC3 Alice Gardham marked EXOSC3 as ready
Arthrogryposis EXOSC3 Alice Gardham classified EXOSC3 as green
Arthrogryposis EXOSC3 Alice Gardham reviewed EXOSC3
Arthrogryposis ETFDH Alice Gardham marked ETFDH as ready
Arthrogryposis ETFDH Alice Gardham reviewed ETFDH
Arthrogryposis ETFB Alice Gardham marked ETFB as ready
Arthrogryposis ETFB Alice Gardham reviewed ETFB
Arthrogryposis ETFA Alice Gardham marked ETFA as ready
Arthrogryposis ETFA Alice Gardham reviewed ETFA
Arthrogryposis DUX4 Alice Gardham marked DUX4 as ready
Arthrogryposis DUX4 Alice Gardham commented on DUX4
Arthrogryposis DPM3 Alice Gardham marked DPM3 as ready
Arthrogryposis DPM1 Alice Gardham marked DPM1 as ready
Arthrogryposis DPM1 Alice Gardham commented on DPM1
Arthrogryposis DOLK Alice Gardham marked DOLK as ready
Arthrogryposis DOLK Alice Gardham commented on DOLK
Arthrogryposis DAG1 Alice Gardham marked DAG1 as ready
Arthrogryposis DAG1 Alice Gardham commented on DAG1
Arthrogryposis CRLF1 Alice Gardham marked CRLF1 as ready
Arthrogryposis CRLF1 Alice Gardham classified CRLF1 as green
Arthrogryposis COL4A1 Alice Gardham marked COL4A1 as ready
Arthrogryposis COL4A1 Alice Gardham commented on COL4A1
Arthrogryposis COL12A1 Alice Gardham marked COL12A1 as ready
Arthrogryposis COL12A1 Alice Gardham classified COL12A1 as green
Arthrogryposis COL12A1 Alice Gardham commented on COL12A1
Arthrogryposis CNTN1 Alice Gardham marked CNTN1 as ready
Arthrogryposis CNTN1 Alice Gardham reviewed CNTN1
Arthrogryposis ALG2 Alice Gardham marked ALG2 as ready
Arthrogryposis ALG2 Alice Gardham reviewed ALG2
Arthrogryposis AGRN Alice Gardham marked AGRN as ready
Arthrogryposis AGRN Alice Gardham reviewed AGRN
Arthrogryposis ACADM Alice Gardham classified ACADM as red
Arthrogryposis ACADM Alice Gardham classified ACADM as red
Arthrogryposis ACADM Alice Gardham classified ACADM as red
Arthrogryposis ACADM Alice Gardham commented on ACADM
Arthrogryposis ABHD5 Alice Gardham reviewed ABHD5
Arthrogryposis YARS2 Alice Gardham marked YARS2 as ready
Arthrogryposis YARS2 Alice Gardham classified YARS2 as red
Arthrogryposis YARS2 Alice Gardham commented on YARS2
Arthrogryposis VCP Alice Gardham marked VCP as ready
Arthrogryposis VCP Alice Gardham commented on VCP
Arthrogryposis VCP Alice Gardham classified VCP as red
Arthrogryposis PUS1 Alice Gardham marked PUS1 as ready
Arthrogryposis PUS1 Alice Gardham classified PUS1 as red
Arthrogryposis PUS1 Alice Gardham commented on PUS1
Arthrogryposis MYF6 Alice Gardham marked MYF6 as ready
Arthrogryposis MYF6 Alice Gardham classified MYF6 as red
Arthrogryposis MYF6 Alice Gardham reviewed MYF6
Arthrogryposis MATR3 Alice Gardham marked MATR3 as ready
Arthrogryposis MATR3 Alice Gardham classified MATR3 as red
Arthrogryposis MATR3 Alice Gardham reviewed MATR3
Arthrogryposis LDB3 Alice Gardham classified LDB3 as red
Arthrogryposis LDB3 Alice Gardham reviewed LDB3
Arthrogryposis GNE Alice Gardham marked GNE as ready
Arthrogryposis GNE Alice Gardham classified GNE as red
Arthrogryposis GNE Alice Gardham classified GNE as red
Arthrogryposis GNE Alice Gardham reviewed GNE
Arthrogryposis EMD Alice Gardham marked EMD as ready
Arthrogryposis EMD Alice Gardham classified EMD as red
Arthrogryposis EMD Alice Gardham commented on EMD
Arthrogryposis DPM2 Alice Gardham marked DPM2 as ready
Arthrogryposis DPM2 Alice Gardham classified DPM2 as amber
Arthrogryposis DPM2 Alice Gardham commented on DPM2
Arthrogryposis DYSF Alice Gardham marked DYSF as ready
Arthrogryposis DYSF Alice Gardham classified DYSF as red
Arthrogryposis DYSF Alice Gardham commented on DYSF
Arthrogryposis DPAGT1 Alice Gardham reviewed DPAGT1
Arthrogryposis DNM2 Alice Gardham marked DNM2 as ready
Arthrogryposis TMEM5 Alice Gardham marked TMEM5 as ready
Arthrogryposis TMEM5 Alice Gardham commented on TMEM5
Arthrogryposis TMEM5 Alice Gardham classified TMEM5 as red
Arthrogryposis SCN4A Alice Gardham marked SCN4A as ready
Arthrogryposis SCN4A Alice Gardham classified SCN4A as red
Arthrogryposis SCN4A Alice Gardham reviewed SCN4A
Arthrogryposis POMT2 Alice Gardham marked POMT2 as ready
Arthrogryposis POMT2 Alice Gardham classified POMT2 as red
Arthrogryposis POMT2 Alice Gardham commented on POMT2
Arthrogryposis POMGNT2 Alice Gardham marked POMGNT2 as ready
Arthrogryposis POMGNT2 Alice Gardham classified POMGNT2 as red
Arthrogryposis POMGNT2 Alice Gardham commented on POMGNT2
Arthrogryposis POMT1 Alice Gardham marked POMT1 as ready
Arthrogryposis POMT1 Alice Gardham classified POMT1 as red
Arthrogryposis POMT1 Alice Gardham commented on POMT1
Arthrogryposis POMGNT1 Alice Gardham marked POMGNT1 as ready
Arthrogryposis POMGNT1 Alice Gardham commented on POMGNT1
Arthrogryposis POMGNT1 Alice Gardham classified POMGNT1 as red
Arthrogryposis LMNA Alice Gardham marked LMNA as ready
Arthrogryposis LMNA Alice Gardham classified LMNA as red
Arthrogryposis LMNA Alice Gardham commented on LMNA
Arthrogryposis LARGE Alice Gardham marked LARGE as ready
Arthrogryposis LARGE Alice Gardham classified LARGE as red
Arthrogryposis LARGE Alice Gardham commented on LARGE
Arthrogryposis LAMA2 Alice Gardham marked LAMA2 as ready
Arthrogryposis LAMA2 Alice Gardham commented on LAMA2
Arthrogryposis ITGA7 Alice Gardham marked ITGA7 as ready
Arthrogryposis ITGA7 Alice Gardham classified ITGA7 as red
Arthrogryposis ITGA7 Alice Gardham commented on ITGA7
Arthrogryposis ISPD Alice Gardham marked ISPD as ready
Arthrogryposis ISPD Alice Gardham classified ISPD as red
Arthrogryposis ISPD Alice Gardham commented on ISPD
Arthrogryposis GFPT1 Alice Gardham marked GFPT1 as ready
Arthrogryposis GFPT1 Alice Gardham commented on GFPT1
Arthrogryposis GFPT1 Alice Gardham classified GFPT1 as red
Arthrogryposis FKTN Alice Gardham marked FKTN as ready
Arthrogryposis FKTN Alice Gardham classified FKTN as red
Arthrogryposis FKTN Alice Gardham commented on FKTN
Arthrogryposis FKRP Alice Gardham classified FKRP as red
Arthrogryposis FKRP Alice Gardham classified FKRP as red
Arthrogryposis FKRP Alice Gardham commented on FKRP
Arthrogryposis CHRND Alice Gardham marked CHRND as ready
Arthrogryposis CHRND Alice Gardham reviewed CHRND
Arthrogryposis CHRNB1 Alice Gardham marked CHRNB1 as ready
Arthrogryposis CHRNB1 Alice Gardham commented on CHRNB1
Arthrogryposis CHRNB1 Alice Gardham reviewed CHRNB1
Arthrogryposis CHRNA1 Alice Gardham marked CHRNA1 as ready
Arthrogryposis CHRNA1 Alice Gardham reviewed CHRNA1
Arthrogryposis B4GAT1 Alice Gardham marked B4GAT1 as ready
Arthrogryposis B4GAT1 Alice Gardham classified B4GAT1 as red
Arthrogryposis B4GAT1 Alice Gardham commented on B4GAT1
Arthrogryposis B3GALNT2 Alice Gardham marked B3GALNT2 as ready
Arthrogryposis B3GALNT2 Alice Gardham classified B3GALNT2 as red
Arthrogryposis B3GALNT2 Alice Gardham commented on B3GALNT2
Arthrogryposis DOK7 Alice Gardham marked DOK7 as ready
Arthrogryposis DOK7 Alice Gardham reviewed DOK7
Arthrogryposis DES Alice Gardham marked DES as ready
Arthrogryposis DES Alice Gardham classified DES as red
Arthrogryposis DES Alice Gardham commented on DES
Arthrogryposis DNAJB6 Alice Gardham marked DNAJB6 as ready
Arthrogryposis DNAJB6 Alice Gardham commented on DNAJB6
Arthrogryposis DMD Alice Gardham marked DMD as ready
Arthrogryposis DMD Alice Gardham classified DMD as red
Arthrogryposis DMD Alice Gardham commented on DMD
Arthrogryposis CHKB Alice Gardham marked CHKB as ready
Arthrogryposis CHKB Alice Gardham classified CHKB as red
Arthrogryposis CHKB Alice Gardham commented on CHKB
Arthrogryposis BAG3 Alice Gardham marked BAG3 as ready
Arthrogryposis BAG3 Alice Gardham classified BAG3 as red
Arthrogryposis BAG3 Alice Gardham commented on BAG3
Arthrogryposis CTDP1 Alice Gardham marked CTDP1 as ready
Arthrogryposis CTDP1 Alice Gardham commented on CTDP1
Arthrogryposis CRYAB Alice Gardham marked CRYAB as ready
Arthrogryposis CRYAB Alice Gardham classified CRYAB as red
Arthrogryposis CRYAB Alice Gardham commented on CRYAB
Arthrogryposis CRLF1 Alice Gardham reviewed CRLF1
Arthrogryposis CHAT Alice Gardham marked CHAT as ready
Arthrogryposis CHAT Alice Gardham commented on CHAT
Arthrogryposis CHAT Alice Gardham commented on CHAT
Arthrogryposis CHAT Alice Gardham reviewed CHAT
Arthrogryposis CHRNE Alice Gardham marked CHRNE as ready
Arthrogryposis CHRNE Alice Gardham reviewed CHRNE
Arthrogryposis CPT2 Alice Gardham marked CPT2 as ready
Arthrogryposis CPT2 Alice Gardham commented on CPT2
Arthrogryposis COLQ Alice Gardham marked COLQ as ready
Arthrogryposis COLQ Alice Gardham classified COLQ as green
Arthrogryposis COLQ Alice Gardham commented on COLQ
Arthrogryposis COLQ Alice Gardham reviewed COLQ
Arthrogryposis MYOT Alice Gardham marked MYOT as ready
Arthrogryposis MYOT Alice Gardham classified MYOT as red
Arthrogryposis MYOT Alice Gardham commented on MYOT
Arthrogryposis MUSK Alice Gardham marked MUSK as ready
Arthrogryposis MUSK Alice Gardham reviewed MUSK
Arthrogryposis NALCN Alice Gardham marked NALCN as ready
Arthrogryposis NALCN Alice Gardham classified NALCN as green
Arthrogryposis NALCN Alice Gardham reviewed NALCN
Arthrogryposis NEFL Alice Gardham marked NEFL as ready
Arthrogryposis NEFL Alice Gardham commented on NEFL
Arthrogryposis PABPN1 Alice Gardham marked PABPN1 as ready
Arthrogryposis PABPN1 Alice Gardham commented on PABPN1
Arthrogryposis PFKM Alice Gardham marked PFKM as ready
Arthrogryposis PFKM Alice Gardham commented on PFKM
Arthrogryposis PIP5K1C Alice Gardham classified PIP5K1C as amber
Arthrogryposis PIP5K1C Alice Gardham reviewed PIP5K1C
Arthrogryposis PLEC Alice Gardham marked PLEC as ready
Arthrogryposis PLEC Alice Gardham commented on PLEC
Arthrogryposis PLOD2 Alice Gardham marked PLOD2 as ready
Arthrogryposis PLOD2 Alice Gardham reviewed PLOD2
Arthrogryposis PNPLA2 Alice Gardham marked PNPLA2 as ready
Arthrogryposis PNPLA2 Alice Gardham commented on PNPLA2
Arthrogryposis PNPLA2 Alice Gardham classified PNPLA2 as red
Arthrogryposis POLG Alice Gardham marked POLG as ready
Arthrogryposis POLG Alice Gardham commented on POLG
Arthrogryposis PYGM Alice Gardham marked PYGM as ready
Arthrogryposis PYGM Alice Gardham commented on PYGM
Arthrogryposis RAPSN Alice Gardham marked RAPSN as ready
Arthrogryposis RAPSN Alice Gardham reviewed RAPSN
Arthrogryposis RBCK1 Alice Gardham commented on RBCK1
Arthrogryposis RBCK1 Alice Gardham marked RBCK1 as ready
Arthrogryposis RRM2B Alice Gardham marked RRM2B as ready
Arthrogryposis RRM2B Alice Gardham commented on RRM2B
Arthrogryposis SGCA Alice Gardham marked SGCA as ready
Arthrogryposis SGCA Alice Gardham commented on SGCA
Arthrogryposis SGCB Alice Gardham marked SGCB as ready
Arthrogryposis SGCB Alice Gardham commented on SGCB
Arthrogryposis SGCD Alice Gardham marked SGCD as ready
Arthrogryposis SGCD Alice Gardham commented on SGCD
Arthrogryposis SGCG Alice Gardham commented on SGCG
Arthrogryposis SGCG Alice Gardham marked SGCG as ready
Arthrogryposis SIL1 Alice Gardham marked SIL1 as ready
Arthrogryposis SIL1 Alice Gardham commented on SIL1
Arthrogryposis SLC22A5 Alice Gardham commented on SLC22A5
Arthrogryposis SLC22A5 Alice Gardham marked SLC22A5 as ready
Arthrogryposis SLC25A4 Alice Gardham marked SLC25A4 as ready
Arthrogryposis SLC25A4 Alice Gardham commented on SLC25A4
Arthrogryposis SLC25A42 Alice Gardham marked SLC25A42 as ready
Arthrogryposis SLC25A42 Alice Gardham commented on SLC25A42
Arthrogryposis SLC52A3 Alice Gardham marked SLC52A3 as ready
Arthrogryposis SLC52A3 Alice Gardham commented on SLC52A3
Arthrogryposis SYNE1 Alice Gardham marked SYNE1 as ready
Arthrogryposis SYNE1 Alice Gardham commented on SYNE1
Arthrogryposis SYNE1 Alice Gardham classified SYNE1 as red
Arthrogryposis SYNE2 Alice Gardham marked SYNE2 as ready
Arthrogryposis SYNE2 Alice Gardham commented on SYNE2
Arthrogryposis TCAP Alice Gardham marked TCAP as ready
Arthrogryposis TCAP Alice Gardham commented on TCAP
Arthrogryposis TIA1 Alice Gardham marked TIA1 as ready
Arthrogryposis TIA1 Alice Gardham commented on TIA1
Arthrogryposis TK2 Alice Gardham marked TK2 as ready
Arthrogryposis TK2 Alice Gardham commented on TK2
Arthrogryposis TMEM43 Alice Gardham marked TMEM43 as ready
Arthrogryposis TMEM43 Alice Gardham commented on TMEM43
Arthrogryposis TRIM32 Alice Gardham marked TRIM32 as ready
Arthrogryposis TRPV4 Alice Gardham marked TRPV4 as ready
Arthrogryposis TRPV4 Alice Gardham classified TRPV4 as green
Arthrogryposis TRPV4 Alice Gardham reviewed TRPV4
Arthrogryposis TSEN2 Alice Gardham marked TSEN2 as ready
Arthrogryposis TSEN2 Alice Gardham marked TSEN2 as ready
Arthrogryposis TSEN2 Alice Gardham commented on TSEN2
Arthrogryposis TSEN2 Alice Gardham reviewed TSEN2
Arthrogryposis TSEN34 Alice Gardham marked TSEN34 as ready
Arthrogryposis TSEN34 Alice Gardham reviewed TSEN34
Arthrogryposis TTN Alice Gardham marked TTN as ready
Arthrogryposis TTN Alice Gardham classified TTN as red
Arthrogryposis TTN Alice Gardham reviewed TTN
Arthrogryposis TSEN54 Alice Gardham classified TSEN54 as green
Arthrogryposis TSEN54 Alice Gardham classified TSEN54 as green
Arthrogryposis TSEN54 Alice Gardham classified TSEN54 as green
Arthrogryposis TSEN54 Alice Gardham marked TSEN54 as ready
Arthrogryposis TSEN54 Alice Gardham reviewed TSEN54
Arthrogryposis UBA1 Alice Gardham marked UBA1 as ready
Arthrogryposis UBA1 Alice Gardham reviewed UBA1
Arthrogryposis UTRN Alice Gardham marked UTRN as ready
Arthrogryposis ZMPSTE24 Alice Gardham marked ZMPSTE24 as ready
Arthrogryposis ZMPSTE24 Alice Gardham marked ZMPSTE24 as ready
Arthrogryposis ZMPSTE24 Alice Gardham classified ZMPSTE24 as green
Arthrogryposis ZMPSTE24 Alice Gardham reviewed ZMPSTE24
Arthrogryposis MEGF10 Alice Gardham marked MEGF10 as ready
Arthrogryposis MEGF10 Alice Gardham classified MEGF10 as red
Arthrogryposis MEGF10 Alice Gardham reviewed MEGF10
Arthrogryposis LMOD3 Alice Gardham marked LMOD3 as ready
Arthrogryposis LMOD3 Alice Gardham classified LMOD3 as green
Arthrogryposis LMOD3 Alice Gardham added LMOD3 to panel
Arthrogryposis LMOD3 Alice Gardham reviewed LMOD3
Arthrogryposis STAC3 Alice Gardham marked STAC3 as ready
Arthrogryposis STAC3 Alice Gardham marked STAC3 as ready
Arthrogryposis STAC3 Alice Gardham reviewed STAC3
Arthrogryposis LAMP2 Alice Gardham marked LAMP2 as ready
Arthrogryposis LAMP2 Alice Gardham classified LAMP2 as red
Arthrogryposis LAMP2 Alice Gardham reviewed LAMP2
Arthrogryposis ZC4H2 Alice Gardham marked ZC4H2 as ready
Arthrogryposis ZC4H2 Alice Gardham classified ZC4H2 as green
Arthrogryposis ZC4H2 Alice Gardham added ZC4H2 to panel
Arthrogryposis ZC4H2 Alice Gardham reviewed ZC4H2
Arthrogryposis SLC35A3 Alice Gardham marked SLC35A3 as ready
Arthrogryposis SLC35A3 Alice Gardham added SLC35A3 to panel
Arthrogryposis SLC35A3 Alice Gardham reviewed SLC35A3
Arthrogryposis KLHL40 Alice Gardham marked KLHL40 as ready
Arthrogryposis KLHL40 Alice Gardham classified KLHL40 as green
Arthrogryposis KLHL40 Alice Gardham reviewed KLHL40
Arthrogryposis KLHL41 Alice Gardham marked KLHL41 as ready
Arthrogryposis KLHL41 Alice Gardham classified KLHL41 as green
Arthrogryposis KLHL41 Alice Gardham reviewed KLHL41
Arthrogryposis CCDC78 Alice Gardham marked CCDC78 as ready
Arthrogryposis STIM1 Alice Gardham reviewed STIM1
Arthrogryposis ORAI1 Alice Gardham classified ORAI1 as amber
Arthrogryposis ORAI1 Alice Gardham reviewed ORAI1
Arthrogryposis TPM3 Alice Gardham marked TPM3 as ready
Arthrogryposis TPM3 Alice Gardham reviewed TPM3
Arthrogryposis TNNT1 Alice Gardham marked TNNT1 as ready
Arthrogryposis TNNT1 Alice Gardham reviewed TNNT1
Arthrogryposis SEPN1 Alice Gardham marked SEPN1 as ready
Arthrogryposis SEPN1 Alice Gardham commented on SEPN1
Arthrogryposis RYR1 Alice Gardham marked RYR1 as ready
Arthrogryposis RYR1 Alice Gardham commented on RYR1
Arthrogryposis NEB Alice Gardham marked NEB as ready
Arthrogryposis NEB Alice Gardham reviewed NEB
Arthrogryposis MYH8 Alice Gardham marked MYH8 as ready
Arthrogryposis MYH8 Alice Gardham classified MYH8 as green
Arthrogryposis MYH8 Alice Gardham reviewed MYH8
Arthrogryposis MYH7 Alice Gardham classified MYH7 as amber
Arthrogryposis MYH7 Alice Gardham reviewed MYH7
Arthrogryposis MYH2 Alice Gardham marked MYH2 as ready
Arthrogryposis MYH2 Alice Gardham reviewed MYH2
Arthrogryposis MTM1 Alice Gardham marked MTM1 as ready
Arthrogryposis MTM1 Alice Gardham reviewed MTM1
Arthrogryposis KBTBD13 Alice Gardham marked KBTBD13 as ready
Arthrogryposis KBTBD13 Alice Gardham classified KBTBD13 as red
Arthrogryposis KBTBD13 Alice Gardham reviewed KBTBD13
Arthrogryposis DNM2 Alice Gardham classified DNM2 as amber
Arthrogryposis DNM2 Alice Gardham reviewed DNM2
Arthrogryposis CFL2 Alice Gardham marked CFL2 as ready
Arthrogryposis CFL2 Alice Gardham classified CFL2 as red
Arthrogryposis CFL2 Alice Gardham reviewed CFL2
Arthrogryposis BIN1 Alice Gardham marked BIN1 as ready
Arthrogryposis BIN1 Alice Gardham classified BIN1 as red
Arthrogryposis BIN1 Alice Gardham reviewed BIN1
Arthrogryposis ERCC6 Alice Gardham marked ERCC6 as ready
Arthrogryposis ERCC6 Alice Gardham commented on ERCC6
Arthrogryposis ERBB3 Alice Gardham classified ERBB3 as amber
Arthrogryposis ERBB3 Alice Gardham reviewed ERBB3
Arthrogryposis EGR2 Alice Gardham marked EGR2 as ready
Arthrogryposis CUL4B Alice Gardham marked CUL4B as ready
Arthrogryposis COL9A3 Alice Gardham marked COL9A3 as ready
Arthrogryposis Ellen McDonagh rejected panel
Arthrogryposis COL4A2 Alice Gardham marked COL4A2 as ready
Arthrogryposis CLCF1 Alice Gardham marked CLCF1 as ready
Arthrogryposis CLCF1 Alice Gardham marked CLCF1 as ready
Arthrogryposis CHCHD10 Alice Gardham marked CHCHD10 as ready
Arthrogryposis CAV3 Alice Gardham marked CAV3 as ready
Arthrogryposis CAPN3 Alice Gardham marked CAPN3 as ready
Arthrogryposis BICD2 Alice Gardham marked BICD2 as ready
Arthrogryposis ANO5 Alice Gardham marked ANO5 as ready
Arthrogryposis ALG14 Alice Gardham marked ALG14 as ready
Arthrogryposis AIMP1 Alice Gardham marked AIMP1 as ready
Arthrogryposis AGL Alice Gardham marked AGL as ready
Arthrogryposis ADSL Alice Gardham marked ADSL as ready
Arthrogryposis ACADVL Alice Gardham marked ACADVL as ready
Arthrogryposis ACADS Alice Gardham marked ACADS as ready
Arthrogryposis ACADM Alice Gardham marked ACADM as ready
Arthrogryposis ABHD5 Alice Gardham marked ABHD5 as ready
Arthrogryposis ATP2A1 Alice Gardham marked ATP2A1 as ready
Arthrogryposis ATP2A1 Alice Gardham classified ATP2A1 as red
Arthrogryposis ATP2A1 Alice Gardham commented on ATP2A1
Arthrogryposis COL6A3 Alice Gardham marked COL6A3 as ready
Arthrogryposis COL6A3 Alice Gardham reviewed COL6A3
Arthrogryposis COL6A2 Alice Gardham marked COL6A2 as ready
Arthrogryposis COL6A2 Alice Gardham reviewed COL6A2
Arthrogryposis COL6A1 Alice Gardham marked COL6A1 as ready
Arthrogryposis COL6A1 Alice Gardham reviewed COL6A1
Arthrogryposis CHST14 Alice Gardham marked CHST14 as ready
Arthrogryposis CHST14 Alice Gardham classified CHST14 as green
Arthrogryposis CHST14 Alice Gardham reviewed CHST14
Arthrogryposis CHRNG Alice Gardham marked CHRNG as ready
Arthrogryposis CHRNG Alice Gardham reviewed CHRNG
Arthrogryposis ACTA1 Alice Gardham classified ACTA1 as green
Arthrogryposis ACTA1 Alice Gardham marked ACTA1 as ready
Arthrogryposis ACTA1 Alice Gardham reviewed ACTA1