Activity

Filter

Cancel
Date Panel Item Activity
1350 actions
Arthrogryposis v5.22 LGI3 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.; to: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
Arthrogryposis v5.22 LGI3 Achchuthan Shanmugasundram changed review comment from: PMID:35948005 reported sixteen individuals from eight unrelated families with loss-of-function (LoF) bi-allelic variants in LGI3. All of them exhibited a potentially clinically recognizable peripheral nerve hyperexcitability syndrome (PNHS) trait characterized by global developmental delay, intellectual disability, distal deformities with diminished reflexes, visible facial myokymia, and distinctive electromyographic features suggestive of motor nerve instability.

Distal deformities included knee, hip, and ankle contractures (4/14); contractures/deformities of fingers and feet (6/14); and other uncharacterized deformities (4/14). All sixteen patients had global developmental delay and all thirteen tested patients had mild or moderate intellectual disability.

Lgi3-null mice showed reduced and mis-localized Kv1 channel complexes in myelinated peripheral axons.

This gene has been associated with relevant phenotype in OMIM (MIM #620007), but not yet in Gene2Phenotype.
Sources: Literature; to: PMID:35948005 reported sixteen individuals from eight unrelated families with loss-of-function (LoF) bi-allelic variants in LGI3. All of them exhibited a potentially clinically recognizable peripheral nerve hyperexcitability syndrome (PNHS) trait characterized by global developmental delay, intellectual disability, distal deformities with diminished reflexes, visible facial myokymia, and distinctive electromyographic features suggestive of motor nerve instability.

Distal deformities included knee, hip, and ankle contractures (4/14); contractures/deformities of fingers and feet (6/14); and other uncharacterized deformities (4/14). All sixteen patients had global developmental delay and all thirteen tested patients had mild or moderate intellectual disability.

Lgi3-null mice showed reduced and mis-localized Kv1 channel complexes in myelinated peripheral axons.

This gene has been associated with relevant phenotypes in OMIM (MIM #620007), but not yet in Gene2Phenotype.
Sources: Literature
Arthrogryposis v5.22 LGI3 Achchuthan Shanmugasundram Classified gene: LGI3 as Amber List (moderate evidence)
Arthrogryposis v5.22 LGI3 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
Arthrogryposis v5.22 LGI3 Achchuthan Shanmugasundram Gene: lgi3 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v5.21 LGI3 Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: LGI3.
Arthrogryposis v5.21 LGI3 Achchuthan Shanmugasundram gene: LGI3 was added
gene: LGI3 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: LGI3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LGI3 were set to 35948005
Phenotypes for gene: LGI3 were set to Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, OMIM:620007
Review for gene: LGI3 was set to GREEN
Added comment: PMID:35948005 reported sixteen individuals from eight unrelated families with loss-of-function (LoF) bi-allelic variants in LGI3. All of them exhibited a potentially clinically recognizable peripheral nerve hyperexcitability syndrome (PNHS) trait characterized by global developmental delay, intellectual disability, distal deformities with diminished reflexes, visible facial myokymia, and distinctive electromyographic features suggestive of motor nerve instability.

Distal deformities included knee, hip, and ankle contractures (4/14); contractures/deformities of fingers and feet (6/14); and other uncharacterized deformities (4/14). All sixteen patients had global developmental delay and all thirteen tested patients had mild or moderate intellectual disability.

Lgi3-null mice showed reduced and mis-localized Kv1 channel complexes in myelinated peripheral axons.

This gene has been associated with relevant phenotype in OMIM (MIM #620007), but not yet in Gene2Phenotype.
Sources: Literature
Arthrogryposis v5.19 ADAMTS15 Arina Puzriakova Phenotypes for gene: ADAMTS15 were changed from distal arthrogryposis to Arthrogryposis, distal, type 12, OMIM:620545
Arthrogryposis v5.18 ADAMTS15 Arina Puzriakova Tag gene-checked was removed from gene: ADAMTS15.
Arthrogryposis v5.17 SELENON Eleanor Williams Tag Q1_23_MOI was removed from gene: SELENON.
Arthrogryposis v5.17 SELENON Eleanor Williams commented on gene: SELENON
Arthrogryposis v5.17 CCDC47 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CCDC47.
Arthrogryposis v5.17 CCDC47 Achchuthan Shanmugasundram commented on gene: CCDC47
Arthrogryposis v5.17 FILIP1 Eleanor Williams Tag gene-checked tag was added to gene: FILIP1.
Arthrogryposis v5.17 FILIP1 Eleanor Williams commented on gene: FILIP1
Arthrogryposis v5.17 ACTC1 Achchuthan Shanmugasundram Classified gene: ACTC1 as Amber List (moderate evidence)
Arthrogryposis v5.17 ACTC1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (five unrelated families) available in support of the association of ACTC1 with distal arthrogryposis and hence this gene can be promoted to green rating in the next GMS review.
Arthrogryposis v5.17 ACTC1 Achchuthan Shanmugasundram Gene: actc1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v5.16 ACTC1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: ACTC1.
Arthrogryposis v5.16 ACTC1 Achchuthan Shanmugasundram gene: ACTC1 was added
gene: ACTC1 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTC1 were set to 37457373
Phenotypes for gene: ACTC1 were set to distal arthrogryposis, MONDO:0019942
Review for gene: ACTC1 was set to GREEN
Added comment: Eight individuals from five unrelated families were identified with five different heterozygous missense variants in ACTC1 gene and they were reported with distal arthrogryposis. The clinical presentations included multiple congenital contractures, neck pterygia, scoliosis, and congenital heart defects/cardiomyopathy, short stature.

This gene has been associated with cardiac phenotypes in both OMIM and Gene2Phenotype, but not yet with distal arthrogryposis in either resources.
Sources: Literature
Arthrogryposis v5.15 KIF21A Sarah Leigh Tag Q1_23_promote_green was removed from gene: KIF21A.
Tag Q1_23_NHS_review was removed from gene: KIF21A.
Arthrogryposis v5.15 KCNK3 Sarah Leigh Tag Q4_22_promote_green was removed from gene: KCNK3.
Arthrogryposis v5.15 FILIP1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: FILIP1.
Tag Q2_23_NHS_review was removed from gene: FILIP1.
Arthrogryposis v5.15 COL25A1 Sarah Leigh Tag Q1_23_promote_green was removed from gene: COL25A1.
Arthrogryposis v5.15 SELENON Sarah Leigh reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v5.15 KIF21A Sarah Leigh reviewed gene: KIF21A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v5.15 KCNK3 Sarah Leigh reviewed gene: KCNK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Arthrogryposis v5.15 FILIP1 Sarah Leigh reviewed gene: FILIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v5.15 COL25A1 Sarah Leigh reviewed gene: COL25A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v5.14 SELENON Sarah Leigh Source NHS GMS was added to SELENON.
Mode of inheritance for gene SELENON was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v5.14 KIF21A Sarah Leigh Source Expert Review Green was added to KIF21A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v5.14 KCNK3 Sarah Leigh Source NHS GMS was added to KCNK3.
Source Expert Review Green was added to KCNK3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v5.14 FILIP1 Sarah Leigh Source NHS GMS was added to FILIP1.
Source Expert Review Green was added to FILIP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v5.14 COL25A1 Sarah Leigh Source NHS GMS was added to COL25A1.
Source Expert Review Green was added to COL25A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v5.13 FILIP1 Achchuthan Shanmugasundram Publications for gene: FILIP1 were set to 36943452; 36344539; 37163662
Arthrogryposis v5.12 FILIP1 Achchuthan Shanmugasundram Tag Q2_23_NHS_review tag was added to gene: FILIP1.
Arthrogryposis v5.12 FILIP1 Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: FILIP1.
Arthrogryposis v5.12 FILIP1 Achchuthan Shanmugasundram Classified gene: FILIP1 as Amber List (moderate evidence)
Arthrogryposis v5.12 FILIP1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (6 unrelated cases) for this gene to be promoted to GREEN rating in the next major update.
Arthrogryposis v5.12 FILIP1 Achchuthan Shanmugasundram Gene: filip1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v5.11 FILIP1 Achchuthan Shanmugasundram Publications for gene: FILIP1 were set to PubMed: 36344539; PubMed: 36943452; PMID: 37163662
Arthrogryposis v5.10 FILIP1 Achchuthan Shanmugasundram changed review comment from: PMID:36344539 reported a single male with biallelic variant in FILIP1 (c.2665C > T/ p.Arg889Ter) gene and presenting with distal arthrogryposis with contractures of the knees and elbows, congenital clubfoot, muscular hypotonia, and mild learning disability.

PMID:36943452 reported five individuals from three unrelated families with three different biallelic variants in FILIP1 gene (including the variant reported in the patient from PMID:36344539) and presenting with an overlapping phenotype with congenital contractures affecting shoulder, elbow, hand, hip, knee and foot as well as scoliosis, reduced palmar and plantar skin folds, microcephaly and facial dysmorphism.; to: PMID:36344539 reported a single male with biallelic variant in FILIP1 (c.2665C > T/ p.Arg889Ter) gene and presenting with distal arthrogryposis with contractures of the knees and elbows, congenital clubfoot, muscular hypotonia, and mild learning disability.

PMID:36943452 reported five individuals from three unrelated families with three different biallelic variants in FILIP1 gene (including the variant reported in the patient from PMID:36344539) and presenting with an overlapping phenotype with congenital contractures affecting shoulder, elbow, hand, hip, knee and foot as well as scoliosis, reduced palmar and plantar skin folds, microcephaly and facial dysmorphism.

PMID:37163662 reported five individuals from four unrelated families with four different biallelic variants, out of which three individuals from two different families presented with congenital onset of contractures.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Arthrogryposis v5.10 FILIP1 Achchuthan Shanmugasundram edited their review of gene: FILIP1: Changed publications to: 36943452, 36344539, 37163662
Arthrogryposis v5.10 FILIP1 Achchuthan Shanmugasundram Phenotypes for gene: FILIP1 were changed from neurodevelopmental delay; arthrogryposis; muscular hypotonia; mild learning difficulties to arthrogryposis multiplex congenita, MONDO:0015168
Arthrogryposis v5.9 FILIP1 Achchuthan Shanmugasundram reviewed gene: FILIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36943452, 36344539; Phenotypes: arthrogryposis multiplex congenita, MONDO:0015168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v5.9 FILIP1 Simon Thomas gene: FILIP1 was added
gene: FILIP1 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: FILIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FILIP1 were set to PubMed: 36344539; PubMed: 36943452; PMID: 37163662
Phenotypes for gene: FILIP1 were set to neurodevelopmental delay; arthrogryposis; muscular hypotonia; mild learning difficulties
Penetrance for gene: FILIP1 were set to unknown
Review for gene: FILIP1 was set to GREEN
Added comment: FILIP1 is not an OMIM Morbid gene. All variants submitted to ClinVar are missense variants of uncertain clinical significance and there are only 3 variants recorded in HDMDPro as?DM.

However, two publications in 2023 have established a gene-disease association in 7 unrelated families. All were consanguineous and had a homozygous FILIP1 variant (5 x LoF and 2 x missense). There is also a mouse model (PMID: 29618024).
Sources: Literature
Arthrogryposis v5.9 COASY Sarah Leigh Phenotypes for gene: COASY were changed from Pontocerebellar hypoplasia, type 12, OMIM:618266; pontocerebellar hypoplasia, type 12, MONDO:0032643 to Pontocerebellar hypoplasia, type 12, OMIM:618266; pontocerebellar hypoplasia, type 12, MONDO:0032643
Arthrogryposis v5.8 COASY Sarah Leigh Publications for gene: COASY were set to 30089828; 24360804
Arthrogryposis v5.7 COASY Sarah Leigh Phenotypes for gene: COASY were changed from Severe prenatal onset pontocerebellar hypoplasia, microcephaly, arthrogryposis to Pontocerebellar hypoplasia, type 12, OMIM:618266; pontocerebellar hypoplasia, type 12, MONDO:0032643
Arthrogryposis v5.6 SVIL Achchuthan Shanmugasundram Classified gene: SVIL as Amber List (moderate evidence)
Arthrogryposis v5.6 SVIL Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as there is only limited evidence available: Two unrelated cases of myofibrillar myopathy (MIM #619040) with contractures.
Arthrogryposis v5.6 SVIL Achchuthan Shanmugasundram Gene: svil has been classified as Amber List (Moderate Evidence).
Arthrogryposis v5.5 SVIL Achchuthan Shanmugasundram Phenotypes for gene: SVIL were changed from myopathy; contractures; raised CK to Myofibrillar myopathy 10, OMIM:619040
Arthrogryposis v5.4 SVIL Achchuthan Shanmugasundram reviewed gene: SVIL: Rating: AMBER; Mode of pathogenicity: None; Publications: 32779703; Phenotypes: Myofibrillar myopathy 10, OMIM:619040; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v5.4 SVIL Tracy Lester gene: SVIL was added
gene: SVIL was added to Arthrogryposis. Sources: NHS GMS
Mode of inheritance for gene: SVIL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SVIL were set to 32779703
Phenotypes for gene: SVIL were set to myopathy; contractures; raised CK
Penetrance for gene: SVIL were set to unknown
Review for gene: SVIL was set to AMBER
Added comment: Four individuals from two unrelated consanguineous families with a childhood/adolescence onset of a myopathy associated with homozygous loss-of-function mutations in SVIL. Wide neck, anteverted shoulders and prominent trapezius muscles together with variable contractures were characteristic features. Functional studies on muscle biopsies showed complete loss protein in muscle fibres by western blot.
Sources: Literature
Sources: NHS GMS
Arthrogryposis v5.4 KIF21A Arina Puzriakova Tag Q1_23_NHS_review tag was added to gene: KIF21A.
Arthrogryposis v5.4 GFM2 Arina Puzriakova Phenotypes for gene: GFM2 were changed from Combined oxidative phosphorylation deficiency 39, 618397; arthrogryposis multiplex congenita to Combined oxidative phosphorylation deficiency 39, OMIM:618397
Arthrogryposis v5.3 COL25A1 Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: COL25A1.
Arthrogryposis v5.3 COL25A1 Achchuthan Shanmugasundram Classified gene: COL25A1 as Amber List (moderate evidence)
Arthrogryposis v5.3 COL25A1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (3 unrelated cases) for promoting this gene to GREEN rating at the next major review.
Arthrogryposis v5.3 COL25A1 Achchuthan Shanmugasundram Gene: col25a1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v5.2 COL25A1 Achchuthan Shanmugasundram gene: COL25A1 was added
gene: COL25A1 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: COL25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL25A1 were set to 35077597
Phenotypes for gene: COL25A1 were set to Arthrogryposis multiplex congenita with or without an ocular congenital cranial dysinnervation disorder
Review for gene: COL25A1 was set to GREEN
Added comment: PMID:35077597 reported five patients from three unrelated families identified with biallelic variants in COL25A1 gene presented with a phenotype characterized by arthrogryposis with or without an ocular congenital cranial dysinnervation disorder. The severity of arthrogryposis varied, ranging from mild distal upper limb involvement to arthrogryposis multiplex congenita.

Although the extraocular muscle phenotype has been reported in OMIM (MIM # 616219) and Gene2Phenotype, arthrogryposis has not yet been included in these records.
Sources: Literature
Arthrogryposis v5.1 Achchuthan Shanmugasundram Panel version 5.0 has been signed off on 2023-03-22
Arthrogryposis v5.0 Achchuthan Shanmugasundram promoted panel to version 5.0
Arthrogryposis v4.13 SELENON Achchuthan Shanmugasundram Publications for gene: SELENON were set to 20301467
Arthrogryposis v4.12 SELENON Achchuthan Shanmugasundram Phenotypes for gene: SELENON were changed from Muscular dystrophy, rigid spine, 1, 602771; Myopathy, congenital, with fiber-type disproportion 255310 to Congenital myopathy 3 with rigid spine, OMIM:602771
Arthrogryposis v4.11 SELENON Achchuthan Shanmugasundram Tag Q1_23_MOI tag was added to gene: SELENON.
Arthrogryposis v4.11 SELENON Achchuthan Shanmugasundram reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: None; Publications: 30642275, 32796131; Phenotypes: Congenital myopathy 3 with rigid spine, OMIM:602771; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v4.11 MYOT Achchuthan Shanmugasundram Phenotypes for gene: MYOT were changed from Spheroid Body Myopathy; Muscular dystrophy, limb-girdle, type 1A, 159000 to Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920
Arthrogryposis v4.10 SMN1 Achchuthan Shanmugasundram Phenotypes for gene: SMN1 were changed from arthrogryposis; SMA 0; Spinal muscular atrophy-1, 253300; Spinal muscular atrophy-2, 253550; Spinal muscular atrophy-3, 253400; Spinal muscular atrophy-4, 271150 to arthrogryposis; Spinal muscular atrophy-1, 253300; Spinal muscular atrophy-2, 253550; Spinal muscular atrophy-3, 253400; Spinal muscular atrophy-4, 271150
Arthrogryposis v4.9 CAMLG Achchuthan Shanmugasundram gene: CAMLG was added
gene: CAMLG was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: CAMLG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAMLG were set to 35262690
Phenotypes for gene: CAMLG were set to Congenital disorder of glycosylation, type IIz, OMIM:620201
Review for gene: CAMLG was set to RED
Added comment: Comment on classification of gene: This gene should be rated red as there is only one patient reported so far.

PMID:35262690 reported one patient with homozygous c.633 + 4A>G splice variant in CAMLG presented with a predominantly neurological phenotype with psychomotor disability, contractures, epilepsy, hypotonia and brain malformations.

This gene has already been associated with phenotype in OMIM (MIM #620201), but not in Gene2Phenotype.
Sources: Literature
Arthrogryposis v4.8 KIF21A Achchuthan Shanmugasundram edited their review of gene: KIF21A: Changed phenotypes to: arthrogryposis, MONDO:0008779, fetal akinesia
Arthrogryposis v4.8 KIF21A Achchuthan Shanmugasundram Phenotypes for gene: KIF21A were changed from Arthrogryposis; fetal akinesia to arthrogryposis, MONDO:0008779; fetal akinesia
Arthrogryposis v4.7 KIF21A Achchuthan Shanmugasundram Publications for gene: KIF21A were set to 34740919
Arthrogryposis v4.6 KIF21A Achchuthan Shanmugasundram Classified gene: KIF21A as Amber List (moderate evidence)
Arthrogryposis v4.6 KIF21A Achchuthan Shanmugasundram Gene: kif21a has been classified as Amber List (Moderate Evidence).
Arthrogryposis v4.5 KIF21A Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: KIF21A.
Arthrogryposis v4.5 KIF21A Achchuthan Shanmugasundram reviewed gene: KIF21A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32686171, 34740919; Phenotypes: arthrogryposis, MONDO:0008779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v4.5 ADAMTS15 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: ADAMTS15.
Arthrogryposis v4.5 CNTN1 Eleanor Williams commented on gene: CNTN1
Arthrogryposis v4.5 CNTN1 Eleanor Williams Tag Q3_21_NHS_review was removed from gene: CNTN1.
Arthrogryposis v4.5 PEX6 Eleanor Williams Tag Q1_22_MOI was removed from gene: PEX6.
Arthrogryposis v4.5 COL6A1 Eleanor Williams Tag Q4_21_MOI was removed from gene: COL6A1.
Arthrogryposis v4.5 ACTA1 Eleanor Williams Tag Q3_21_MOI was removed from gene: ACTA1.
Arthrogryposis v4.5 ADAMTS15 Eleanor Williams Tag Q3_22_rating was removed from gene: ADAMTS15.
Tag Q3_22_MOI was removed from gene: ADAMTS15.
Arthrogryposis v4.5 ADAMTS15 Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Arthrogryposis v4.5 PEX6 Eleanor Williams commented on gene: PEX6
Arthrogryposis v4.5 COL6A1 Eleanor Williams commented on gene: COL6A1
Arthrogryposis v4.5 ACTA1 Eleanor Williams commented on gene: ACTA1
Arthrogryposis v4.5 ADAMTS15 Eleanor Williams reviewed gene: ADAMTS15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arthrogryposis v4.4 PEX6 Eleanor Williams Source NHS GMS was added to PEX6.
Mode of inheritance for gene PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v4.4 COL6A1 Eleanor Williams Source NHS GMS was added to COL6A1.
Mode of inheritance for gene COL6A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v4.4 ADAMTS15 Eleanor Williams Source Expert Review Green was added to ADAMTS15.
Source NHS GMS was added to ADAMTS15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v4.4 ACTA1 Eleanor Williams Source NHS GMS was added to ACTA1.
Mode of inheritance for gene ACTA1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v4.3 KIF21A Hannah Robinson gene: KIF21A was added
gene: KIF21A was added to Arthrogryposis. Sources: Literature,NHS GMS
Mode of inheritance for gene: KIF21A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF21A were set to 34740919
Phenotypes for gene: KIF21A were set to Arthrogryposis; fetal akinesia
Penetrance for gene: KIF21A were set to unknown
Review for gene: KIF21A was set to GREEN
gene: KIF21A was marked as current diagnostic
Added comment: Falb et al 2023 (PMID: 34740919) describe two unrelated families in which biallelic loss of function variants segregated with a severe form of fetal akinesia characterised by arthrogryposis multiplex, pulmonary hypoplasia and variable facial dysmorphisms.

Exeter Genomics Laboratory has identified an unrelated third case homozygous for a nonsense variant in KIF21A. The patient had an antenatal diagnosis of talipes, arthrogryposis, polyhydramnios and lack of fetal movements. At birth, all joints displayed fixed flexion deformities, no primitive reflexes, poor muscle bulk and care was re-oriented shortly after birth.

Taken together, three unrelated cases including segregation evidence in the published families provides sufficient evidence for the gene-disease association.
Sources: Literature, NHS GMS
Arthrogryposis v4.3 CHRNE Arina Puzriakova Phenotypes for gene: CHRNE were changed from Myasthenic syndrome, congenital, 4A, slow-channel 605809; Myasthenic syndrome, congenital, 4B, fast-channel 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency 608931 to Myasthenic syndrome, congenital, 4A, slow-channel, OMIM:605809; Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931
Arthrogryposis v4.2 KCNK3 Arina Puzriakova changed review comment from: Comment on list classification: Given the number of unrelated cases with a comparable phenotype, all shown to have variants that cluster near the X-gate and cause increased channel activation, this gene should be promoted to Green status at the next GMS panel update.

The overall phenotype is likely most compatible with the Paediatric disorders super panel, and addition to the ID panel will ensure this genes' inclusion.; to: Comment on list classification: Given the number of unrelated cases with a comparable phenotype (including arthrogryposis/flexion contractures/foot deformities), all shown to have variants that cluster near the X-gate and cause increased channel activation, this gene should be promoted to Green status at the next GMS panel update.
Arthrogryposis v4.2 KCNK3 Arina Puzriakova Entity copied from Intellectual disability v4.17
Arthrogryposis v4.2 KCNK3 Arina Puzriakova gene: KCNK3 was added
gene: KCNK3 was added to Arthrogryposis. Sources: Literature,Expert Review Amber
Q4_22_promote_green tags were added to gene: KCNK3.
Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNK3 were set to 36195757
Phenotypes for gene: KCNK3 were set to Developmental disorder with sleep apnea
Mode of pathogenicity for gene: KCNK3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Arthrogryposis v4.1 Arina Puzriakova Panel version 4.0 has been signed off on 2022-11-30
Arthrogryposis v4.0 Arina Puzriakova promoted panel to version 4.0
Arthrogryposis v3.163 ADAMTS15 Sarah Leigh Classified gene: ADAMTS15 as Amber List (moderate evidence)
Arthrogryposis v3.163 ADAMTS15 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Arthrogryposis v3.163 ADAMTS15 Sarah Leigh Gene: adamts15 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.162 ADAMTS15 Sarah Leigh gene: ADAMTS15 was added
gene: ADAMTS15 was added to Arthrogryposis. Sources: Literature
Q3_22_rating, Q3_22_MOI tags were added to gene: ADAMTS15.
Mode of inheritance for gene: ADAMTS15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS15 were set to 35962790
Phenotypes for gene: ADAMTS15 were set to distal arthrogryposis
Review for gene: ADAMTS15 was set to GREEN
Added comment: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. At least four variants have been reported by PMID: 35962790 in four independent consanguineous families, the unaffected parents were heterozgous for the causative variants in each of the families.
Sources: Literature
Arthrogryposis v3.161 PIEZO2 Arina Puzriakova commented on gene: PIEZO2: The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.
Arthrogryposis v3.161 FGFR2 Arina Puzriakova commented on gene: FGFR2: The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.
Arthrogryposis v3.161 DNM2 Arina Puzriakova commented on gene: DNM2: The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.
Arthrogryposis v3.160 MTM1 Arina Puzriakova Phenotypes for gene: MTM1 were changed from X-linked myotubular myopathy; Myotubular myopathy, X-linked, 310400 to Myopathy, centronuclear, X-linked, OMIM:310400
Arthrogryposis v3.159 GBA Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for GBA is GBA1.; to: Added new-gene-name tag, new approved HGNC gene symbol for GBA is GBA1.
Arthrogryposis v3.159 KIAA1109 Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for KIAA1109 is BLTP1.; to: Added new-gene-name tag, new approved HGNC gene symbol for KIAA1109 is BLTP1.
Arthrogryposis v3.159 KIAA1109 Sarah Leigh Tag new-gene-name tag was added to gene: KIAA1109.
Arthrogryposis v3.159 KIAA1109 Sarah Leigh edited their review of gene: KIAA1109: Added comment: The new_gene_name tag has been added. The new name for KIAA1109 is BLTP1.; Changed phenotypes to: Alkuraya-Kucinskas syndrome 617822
Arthrogryposis v3.159 GBA Sarah Leigh Tag new-gene-name tag was added to gene: GBA.
Arthrogryposis v3.159 GBA Sarah Leigh commented on gene: GBA
Arthrogryposis v3.159 ERGIC1 Eleanor Williams Tag gene-checked tag was added to gene: ERGIC1.
Arthrogryposis v3.159 KIF26B Arina Puzriakova Classified gene: KIF26B as Red List (low evidence)
Arthrogryposis v3.159 KIF26B Arina Puzriakova Added comment: Comment on list classification: Rating Red as only a single case (PMID: 30151950) has been reported to this date.
Arthrogryposis v3.159 KIF26B Arina Puzriakova Gene: kif26b has been classified as Red List (Low Evidence).
Arthrogryposis v3.158 PEX6 Sarah Leigh Penetrance for gene PEX6 was set from to Complete
Arthrogryposis v3.157 PEX6 Sarah Leigh edited their review of gene: PEX6: Added comment: Arthrogryposis maybe over looked in patients with Peroxisome biogenesis disorder 4A (Zellweger) (OMIM:614862) and Peroxisome biogenesis disorder 4B (OMIM:6148630), as these conditions are characterized by a severe phenotype and premature death in some cases. If this is the case, for Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) have identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678).; Changed mode of pathogenicity: Other; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v3.157 PEX6 Sarah Leigh Tag Q1_22_MOI tag was added to gene: PEX6.
Arthrogryposis v3.157 PEX6 Sarah Leigh Phenotypes for gene: PEX6 were changed from Peroxisome biogenesis disorder 4A (Zellweger) 614862 to Heimler syndrome 2, OMIM:616617; Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862; Peroxisome biogenesis disorder 4B, OMIM:614863
Arthrogryposis v3.156 PEX6 Sarah Leigh Publications for gene: PEX6 were set to 20301621
Arthrogryposis v3.155 PEX6 Sarah Leigh Added comment: Comment on mode of inheritance: The Q1_22_MOI tag has been added to this gene. The mode of inheritance for PEX6 should be set to: BOTH monoallelic and biallelic, autosomal or pseudoautosomal, in order to detect the dominant Peroxisome biogenesis disorder 4B (OMIM:614863). Incomplete penetrance has been noted, in order to highlight that unaffected parents may also carry rs61753230.
Arthrogryposis v3.155 PEX6 Sarah Leigh Mode of inheritance for gene: PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v3.154 EBP Ivone Leong Tag Q2_21_expert_review was removed from gene: EBP.
Arthrogryposis v3.154 ERBB3 Ivone Leong Tag Q2_21_rating was removed from gene: ERBB3.
Arthrogryposis v3.154 ERGIC1 Ivone Leong Tag Q3_21_rating was removed from gene: ERGIC1.
Arthrogryposis v3.154 FLNA Ivone Leong Tag Q3_21_rating was removed from gene: FLNA.
Arthrogryposis v3.154 KIDINS220 Ivone Leong Tag Q2_21_rating was removed from gene: KIDINS220.
Arthrogryposis v3.154 MED12 Ivone Leong Tag Q3_21_rating was removed from gene: MED12.
Arthrogryposis v3.154 MYLPF Ivone Leong Tag Q2_21_expert_review was removed from gene: MYLPF.
Arthrogryposis v3.154 SLC29A3 Ivone Leong Tag Q4_21_rating was removed from gene: SLC29A3.
Tag Q4_21_NHS_review was removed from gene: SLC29A3.
Arthrogryposis v3.154 SLC6A9 Ivone Leong Tag Q4_21_rating was removed from gene: SLC6A9.
Tag Q4_21_NHS_review was removed from gene: SLC6A9.
Arthrogryposis v3.154 SYNE1 Ivone Leong Tag Q2_21_rating was removed from gene: SYNE1.
Arthrogryposis v3.154 MYL1 Ivone Leong Tag Q2_21_rating was removed from gene: MYL1.
Arthrogryposis v3.154 FBN2 Ivone Leong Tag Q2_21_MOI was removed from gene: FBN2.
Arthrogryposis v3.154 SYNE1 Sarah Leigh commented on gene: SYNE1
Arthrogryposis v3.154 SLC6A9 Sarah Leigh commented on gene: SLC6A9
Arthrogryposis v3.154 SLC29A3 Sarah Leigh commented on gene: SLC29A3
Arthrogryposis v3.154 MYLPF Sarah Leigh commented on gene: MYLPF
Arthrogryposis v3.154 MYL1 Sarah Leigh commented on gene: MYL1
Arthrogryposis v3.154 MED12 Sarah Leigh commented on gene: MED12
Arthrogryposis v3.154 KIDINS220 Sarah Leigh commented on gene: KIDINS220
Arthrogryposis v3.154 FLNA Sarah Leigh commented on gene: FLNA
Arthrogryposis v3.154 FBN2 Sarah Leigh commented on gene: FBN2: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Arthrogryposis v3.154 ERGIC1 Sarah Leigh commented on gene: ERGIC1
Arthrogryposis v3.154 ERBB3 Sarah Leigh commented on gene: ERBB3: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Arthrogryposis v3.154 EBP Sarah Leigh commented on gene: EBP
Arthrogryposis v3.153 SYNE1 Ivone Leong Source Expert Review Green was added to SYNE1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.153 SLC6A9 Ivone Leong Source Expert Review Green was added to SLC6A9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.153 SLC29A3 Ivone Leong Source Expert Review Green was added to SLC29A3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.153 MYL1 Ivone Leong Source Expert Review Red was added to MYL1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Arthrogryposis v3.153 MED12 Ivone Leong Source Expert Review Green was added to MED12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.153 KIDINS220 Ivone Leong Source Expert Review Green was added to KIDINS220.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.153 FLNA Ivone Leong Source Expert Review Green was added to FLNA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.153 FBN2 Ivone Leong Source NHS GMS was added to FBN2.
Mode of inheritance for gene FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v3.153 ERGIC1 Ivone Leong Source Expert Review Green was added to ERGIC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.153 ERBB3 Ivone Leong Source Expert Review Green was added to ERBB3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.153 EBP Ivone Leong Source Expert Review Green was added to EBP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.152 PIEZO2 Arina Puzriakova commented on gene: PIEZO2
Arthrogryposis v3.152 FGFR2 Arina Puzriakova commented on gene: FGFR2
Arthrogryposis v3.152 DNM2 Arina Puzriakova commented on gene: DNM2
Arthrogryposis v3.151 PIEZO2 Arina Puzriakova Mode of inheritance for gene PIEZO2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v3.151 FGFR2 Arina Puzriakova Mode of inheritance for gene FGFR2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Arthrogryposis v3.151 DNM2 Arina Puzriakova Mode of inheritance for gene DNM2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Arthrogryposis v3.150 ERCC5 Sarah Leigh Tag for-review was removed from gene: ERCC5.
Arthrogryposis v3.150 LMX1B Sarah Leigh Tag for-review was removed from gene: LMX1B.
Arthrogryposis v3.150 ADCY6 Sarah Leigh Tag for-review was removed from gene: ADCY6.
Arthrogryposis v3.150 TOR1AIP1 Sarah Leigh Tag for-review was removed from gene: TOR1AIP1.
Arthrogryposis v3.150 SCN1A Sarah Leigh Tag for-review was removed from gene: SCN1A.
Arthrogryposis v3.150 NEK9 Sarah Leigh Tag for-review was removed from gene: NEK9.
Arthrogryposis v3.150 FLNC Sarah Leigh Tag for-review was removed from gene: FLNC.
Arthrogryposis v3.150 ATP1A2 Sarah Leigh Tag for-review was removed from gene: ATP1A2.
Arthrogryposis v3.150 MYH7 Sarah Leigh Tag for-review was removed from gene: MYH7.
Arthrogryposis v3.150 MYH2 Sarah Leigh Tag for-review was removed from gene: MYH2.
Arthrogryposis v3.150 MYH2 Sarah Leigh commented on gene: MYH2
Arthrogryposis v3.150 MYH7 Sarah Leigh commented on gene: MYH7
Arthrogryposis v3.150 ATP1A2 Sarah Leigh commented on gene: ATP1A2
Arthrogryposis v3.150 FLNC Sarah Leigh commented on gene: FLNC
Arthrogryposis v3.150 NEK9 Sarah Leigh commented on gene: NEK9
Arthrogryposis v3.150 SCN1A Sarah Leigh commented on gene: SCN1A
Arthrogryposis v3.150 TOR1AIP1 Sarah Leigh commented on gene: TOR1AIP1
Arthrogryposis v3.150 ADCY6 Sarah Leigh commented on gene: ADCY6
Arthrogryposis v3.150 LMX1B Sarah Leigh commented on gene: LMX1B
Arthrogryposis v3.150 ERCC5 Sarah Leigh commented on gene: ERCC5
Arthrogryposis v3.149 MYH2 Sarah Leigh Source Expert Review Red was added to MYH2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Arthrogryposis v3.149 MYH7 Sarah Leigh Source Expert Review Red was added to MYH7.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Arthrogryposis v3.149 ATP1A2 Sarah Leigh Source Expert Review Green was added to ATP1A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.149 FLNC Sarah Leigh Source Expert Review Green was added to FLNC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.149 NEK9 Sarah Leigh Source Expert Review Green was added to NEK9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.149 SCN1A Sarah Leigh Source Expert Review Green was added to SCN1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.149 TOR1AIP1 Sarah Leigh Source Expert Review Green was added to TOR1AIP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.149 ADCY6 Sarah Leigh Source Expert Review Green was added to ADCY6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.149 LMX1B Sarah Leigh Source Expert Review Green was added to LMX1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.149 ERCC5 Sarah Leigh Source Expert Review Green was added to ERCC5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.148 NALCN Arina Puzriakova Phenotypes for gene: NALCN were changed from Congenital contractures of the limbs and face, hypotonia, and developmental delay 616266 to Congenital contractures of the limbs and face, hypotonia, and developmental delay, OMIM:616266
Arthrogryposis v3.147 KIF26B Zornitza Stark gene: KIF26B was added
gene: KIF26B was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: KIF26B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF26B were set to 30151950
Phenotypes for gene: KIF26B were set to Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis
Review for gene: KIF26B was set to RED
Added comment: 1 report only of infant with progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis secondary to the involvement of anterior horn cells and ventral (motor) nerves. Whole exome sequencing on the trio identified a de novo KIF26B missense variant (p.Gly546Ser). Functional analysis of the variant protein in cultured cells revealed a reduction in the KIF26B protein's ability to promote cell adhesion, a defect that potentially contributes to its pathogenicity.
Sources: Literature
Arthrogryposis v3.147 CPT2 Arina Puzriakova Phenotypes for gene: CPT2 were changed from Myopathy due to CPT II deficiency, 255110 to CPT II deficiency, infantile, OMIM:600649; CPT II deficiency, lethal neonatal, OMIM:608836
Arthrogryposis v3.146 RBCK1 Arina Puzriakova Phenotypes for gene: RBCK1 were changed from Polyglucosan body myopathy, early-onset, with or without immunodeficiency, 615895 to Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
Arthrogryposis v3.145 SLC6A9 Arina Puzriakova Tag Q4_21_NHS_review tag was added to gene: SLC6A9.
Arthrogryposis v3.145 IBA57 Arina Puzriakova Phenotypes for gene: IBA57 were changed from Multiple mitochondrial dysfunctions syndrome 3 615330 to Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330
Arthrogryposis v3.144 EXOSC3 Arina Puzriakova Phenotypes for gene: EXOSC3 were changed from Pontocerebellar hypoplasia, type 1B 614678 to Pontocerebellar hypoplasia, type 1B, OMIM:614678
Arthrogryposis v3.143 KIDINS220 Arina Puzriakova Added comment: Comment on phenotypes: Added relevant phenotype now listed in OMIM (MIM# 619501)
Arthrogryposis v3.143 KIDINS220 Arina Puzriakova Phenotypes for gene: KIDINS220 were changed from brain ventriculomegaly and limb contractures to Ventriculomegaly and arthrogryposis, OMIM:619501
Arthrogryposis v3.142 DMPK Arina Puzriakova Phenotypes for gene: DMPK were changed from Myotonic dystrophy 1 160900 to Myotonic dystrophy 1, OMIM:160900
Arthrogryposis v3.141 DMPK Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Arthrogryposis v3.141 DMPK Arina Puzriakova Mode of inheritance for gene: DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Arthrogryposis v3.140 DMPK Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: DMPK.
Tag currently-ngs-unreportable tag was added to gene: DMPK.
Arthrogryposis v3.140 SLC6A9 Arina Puzriakova Classified gene: SLC6A9 as Amber List (moderate evidence)
Arthrogryposis v3.140 SLC6A9 Arina Puzriakova Added comment: Comment on list classification: There is now sufficient evidence to promote this gene to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Arthrogryposis v3.140 SLC6A9 Arina Puzriakova Gene: slc6a9 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.139 SLC6A9 Arina Puzriakova Publications for gene: SLC6A9 were set to 27773429; 27481395
Arthrogryposis v3.138 SLC6A9 Arina Puzriakova Phenotypes for gene: SLC6A9 were changed from Glycine encephalopathy with normal serum glycine, 617301; Glycine Encephalopathy with Arthrogryposis to Glycine encephalopathy with normal serum glycine, OMIM:617301
Arthrogryposis v3.137 SLC6A9 Arina Puzriakova Tag Q4_21_rating tag was added to gene: SLC6A9.
Arthrogryposis v3.137 SLC6A9 Rhiannon Mellis reviewed gene: SLC6A9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31875334, 27773429, 32712301, 33269555; Phenotypes: Arthrogryposis multiplex congenita, Glycine encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v3.137 CRYAB Arina Puzriakova Phenotypes for gene: CRYAB were changed from Myopathy, myofibrillar, 2, OMIM:608810; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:61386 to Myopathy, myofibrillar, 2, OMIM:608810; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869
Arthrogryposis v3.136 CRYAB Arina Puzriakova Phenotypes for gene: CRYAB were changed from Myopathy, myofibrillar, 2, 608810Cataract 16, multiple types, 613763Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related, 613869Cardiomyopathy, dilated, 1II, 615184; Myofibrillar Myopathy, Dominant to Myopathy, myofibrillar, 2, OMIM:608810; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:61386
Arthrogryposis v3.135 COL9A3 Arina Puzriakova Phenotypes for gene: COL9A3 were changed from Epiphyseal dysplasia, multiple, 3, 600969Epiphyseal dysplasia, multiple, with myopathy{Intervertebral disc disease, susceptibility to}, 603932 to Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969
Arthrogryposis v3.134 COL9A3 Arina Puzriakova Mode of inheritance for gene: COL9A3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v3.133 COL6A3 Arina Puzriakova Phenotypes for gene: COL6A3 were changed from Ullrich congenital muscular dystrophy 1 254090; Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090 to Bethlem myopathy, OMIM:158810; Ullrich congenital muscular dystrophy, OMIM:254090
Arthrogryposis v3.132 COL6A1 Arina Puzriakova Tag Q4_21_MOI tag was added to gene: COL6A1.
Arthrogryposis v3.132 COL6A1 Arina Puzriakova Phenotypes for gene: COL6A1 were changed from Ullrich congenital muscular dystrophy 1 254090; Bethlem myopathy 1 158810; Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090{Ossification of the posterior longitudinal spinal ligaments}, 602475 (2); Bethlem myopathy; Ullrich Congenital Muscular Dystrophy to Bethlem myopathy 1, OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090
Arthrogryposis v3.131 COL6A1 Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'Monoallelic' to 'Both mono- and biallelic' at the next GMS panel update. COL6A1 is associated with two relevant disorders which include multiple joint contractures, both of which show biallelic and monoallelic inheritance (Bethlem myopathy 1, OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090).
Arthrogryposis v3.131 COL6A1 Arina Puzriakova Mode of inheritance for gene: COL6A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Arthrogryposis v3.130 ZC4H2 Ivone Leong Phenotypes for gene: ZC4H2 were changed from Wieacker-Wolff syndrome 314580 to Wieacker-Wolff syndrome, OMIM:314580; Wieacker-Wolff syndrome, female-restricted, OMIM:301041
Arthrogryposis v3.129 ERGIC1 Arina Puzriakova Publications for gene: ERGIC1 were set to 28317099; 34037256
Arthrogryposis v3.128 ERGIC1 Arina Puzriakova Classified gene: ERGIC1 as Amber List (moderate evidence)
Arthrogryposis v3.128 ERGIC1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. There is sufficient evidence to promote this gene to Green at the next GMS panel update - three unrelated families reported to date with arthrogryposis associated with different variants in this gene (PMID: 28317099; 31230720; 34037256).
Arthrogryposis v3.128 ERGIC1 Arina Puzriakova Gene: ergic1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.127 ERGIC1 Arina Puzriakova Tag watchlist was removed from gene: ERGIC1.
Tag Q3_21_rating tag was added to gene: ERGIC1.
Arthrogryposis v3.127 ERGIC1 Arina Puzriakova reviewed gene: ERGIC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31230720; Phenotypes: Arthrogryposis multiplex congenita 2, neurogenic type, OMIM:208100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v3.127 ERGIC1 Arina Puzriakova Tag watchlist tag was added to gene: ERGIC1.
Arthrogryposis v3.127 ERGIC1 Arina Puzriakova Phenotypes for gene: ERGIC1 were changed from Arthrogryposis multiplex congenita 2, neurogenic type; OMIM # 208100 to Arthrogryposis multiplex congenita 2, neurogenic type, OMIM:208100
Arthrogryposis v3.126 SLC29A3 Arina Puzriakova Publications for gene: SLC29A3 were set to
Arthrogryposis v3.125 SLC29A3 Arina Puzriakova Tag Q4_21_rating tag was added to gene: SLC29A3.
Arthrogryposis v3.125 SLC29A3 Arina Puzriakova Classified gene: SLC29A3 as Amber List (moderate evidence)
Arthrogryposis v3.125 SLC29A3 Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Lucy Jackson (NHS). Fixed flexion contractures of the fingers, toes and elbows have been reported in FHC and H-syndrome. Sufficient unrelated cases of joint contractures which can be a presenting feature to rate as Green at the next GMS panel update.
Arthrogryposis v3.125 SLC29A3 Arina Puzriakova Gene: slc29a3 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.124 SLC29A3 Arina Puzriakova Phenotypes for gene: SLC29A3 were changed from Histiocytosis-lymphadenopathy plus syndrome to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
Arthrogryposis v3.123 SLC29A3 Arina Puzriakova Tag Q4_21_NHS_review tag was added to gene: SLC29A3.
Arthrogryposis v3.123 CHRND Ivone Leong Phenotypes for gene: CHRND were changed from Myasthenic syndrome, congenital, 3A, slow-channel 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency 616323; Multiple pterygium syndrome, lethal type 253290; Myasthenic syndrome, congenital, 3B, fast-channel 616322 to Multiple pterygium syndrome, lethal type, OMIM:253290
Arthrogryposis v3.122 ERGIC1 Zornitza Stark gene: ERGIC1 was added
gene: ERGIC1 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: ERGIC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERGIC1 were set to 28317099; 34037256
Phenotypes for gene: ERGIC1 were set to Arthrogryposis multiplex congenita 2, neurogenic type; OMIM # 208100
Review for gene: ERGIC1 was set to AMBER
Added comment: Reinstein et al. (2018) used WES in a large consanguineous Israeli Arab kindred consisting of 16 patients affected with the neurogenic type of arthrogryposis multiplex congenita. They identified a homozygous missense (V98E) mutation in ERGIC1 gene, which segregated with the disorder in the kindred, and was not found in the ExAC database or in 212 ethnically matched controls. Functional studies of the variant and studies of patient cells were not performed. ERGIC1 encodes a cycling membrane protein which has a possible role in transport between endoplasmic reticulum and Golgi.

Marconi et al (2021) used genome sequencing in a consanguineous family with 2 affected siblings presenting congenital arthrogryposis and some facial dysmorphism. They identified a homozygous 22.6 Kb deletion encompassing the promoter and first exon of ERGIC1. mRNA quantification showed the complete absence of ERGIC1 expression in the two affected siblings and a decrease in heterozygous parents.
Sources: Literature
Arthrogryposis v3.122 SLC29A3 Lucy Jackson gene: SLC29A3 was added
gene: SLC29A3 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome
Review for gene: SLC29A3 was set to GREEN
gene: SLC29A3 was marked as current diagnostic
Added comment: Sources: Literature
Arthrogryposis v3.122 MED12 Eleanor Williams reviewed gene: MED12: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v3.122 CNTN1 Arina Puzriakova Tag Q3_21_NHS_review tag was added to gene: CNTN1.
Arthrogryposis v3.122 CNTN1 Arina Puzriakova Phenotypes for gene: CNTN1 were changed from Myopathy, congenital, Compton-North, 612540 to Myopathy, congenital, Compton-North, OMIM:612540
Arthrogryposis v3.121 CNTN1 Arina Puzriakova Publications for gene: CNTN1 were set to
Arthrogryposis v3.120 CNTN1 Arina Puzriakova Classified gene: CNTN1 as Amber List (moderate evidence)
Arthrogryposis v3.120 CNTN1 Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber as two families with homozygous variants and a relevant phenotype have now been reported in literature.
Arthrogryposis v3.120 CNTN1 Arina Puzriakova Gene: cntn1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.119 CNTN1 Rhiannon Mellis reviewed gene: CNTN1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32779773; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v3.119 FLNC Arina Puzriakova Added comment: Comment on publications: PMID: 33060286 - additional patient presenting at birth with mild arthrogryposis including hip dislocation, clenched hands, adducted thumbs.
Arthrogryposis v3.119 FLNC Arina Puzriakova Publications for gene: FLNC were set to 29858533
Arthrogryposis v3.118 L1CAM Arina Puzriakova Mode of inheritance for gene: L1CAM was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v3.117 GBE1 Arina Puzriakova Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV 232500 to Glycogen storage disease IV, OMIM:232500
Arthrogryposis v3.116 C12orf65 Arina Puzriakova Phenotypes for gene: C12orf65 were changed from to Spastic paraplegia 55, autosomal recessive, OMIM:615035
Arthrogryposis v3.115 C12orf65 Arina Puzriakova Mode of inheritance for gene: C12orf65 was changed from to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v3.114 C12orf65 Arina Puzriakova Publications for gene: C12orf65 were set to
Arthrogryposis v3.113 SMAD3 Eleanor Williams commented on gene: SMAD3
Arthrogryposis v3.113 MYOD1 Ivone Leong Tag Q3_21_rating was removed from gene: MYOD1.
Tag watchlist tag was added to gene: MYOD1.
Arthrogryposis v3.113 MYOD1 Ivone Leong changed review comment from: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.; to: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics) on Congenital myopathy panel. This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is currently not enough evidence to support a gene-disease association on this panel (Arthrogryposis). Therefore, this gene has been given an Amber rating.
Arthrogryposis v3.113 MYOD1 Ivone Leong Entity copied from Congenital myopathy v2.56
Arthrogryposis v3.113 MYOD1 Ivone Leong gene: MYOD1 was added
gene: MYOD1 was added to Arthrogryposis. Sources: Expert Review Amber,Literature
Q3_21_rating tags were added to gene: MYOD1.
Mode of inheritance for gene: MYOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYOD1 were set to 26733463; 30403323; 31260566
Phenotypes for gene: MYOD1 were set to Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975
Arthrogryposis v3.112 MED12 Arina Puzriakova Classified gene: MED12 as Amber List (moderate evidence)
Arthrogryposis v3.112 MED12 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Arthrogryposis v3.112 MED12 Arina Puzriakova Gene: med12 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.111 MED12 Arina Puzriakova Phenotypes for gene: MED12 were changed from MED12-related disorders to MED12-related disorders; Opitz-Kaveggia syndrome, OMIM:305450; Ohdo syndrome, X-linked, OMIM:300895; Lujan-Fryns syndrome, OMIM:309520
Arthrogryposis v3.110 MED12 Arina Puzriakova Publications for gene: MED12 were set to 20301719
Arthrogryposis v3.109 MED12 Arina Puzriakova Tag Q3_21_rating tag was added to gene: MED12.
Arthrogryposis v3.109 MED12 Arina Puzriakova reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: 565138, 7201743, 16700052, 17369503, 19938245, 25790323; Phenotypes: Opitz-Kaveggia syndrome, OMIM:305450, Ohdo syndrome, X-linked, OMIM:300895, Lujan-Fryns syndrome, OMIM:309520; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
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 v3.108 FLNA Arina Puzriakova Classified gene: FLNA as Amber List (moderate evidence)
Arthrogryposis v3.108 FLNA Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant disorder on OMIM and G2P. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Arthrogryposis v3.108 FLNA Arina Puzriakova Gene: flna has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.107 FLNA Arina Puzriakova Tag Q3_21_rating tag was added to gene: FLNA.
Arthrogryposis v3.107 ACTA1 Ivone Leong Tag Q3_21_MOI tag was added to gene: ACTA1.
Arthrogryposis v3.107 ACTA1 Ivone Leong reviewed gene: ACTA1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v3.107 ACTA1 Ivone Leong Phenotypes for gene: ACTA1 were changed from Nemaline myopathy 3, autosomal dominant or recessive 161800; Myopathy, actin, congenital, with excess of thin myofilaments 161800; Myopathy, actin, congenital, with cores 161800; nemaline myopathy; Nemaline myopathy 3, autosomal dominant or recessive, 161800Myopathy, actin, congenital, with excess of thin myofilaments, 161800Myopathy, actin, congenital, with cores, 161800Myopathy, congenital, with fiber-type disproportion 1, 255310; Nemaline Myopathy; CMD with rigid spine to Myopathy, actin, congenital, with cores, OMIM:161800; Myopathy, actin, congenital, with excess of thin myofilaments, OMIM:161800; Myopathy, congenital, with fiber-type disproportion 1, OMIM:255310; Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800; CMD with rigid spine
Arthrogryposis v3.106 DPM1 Arina Puzriakova Mode of inheritance for gene: DPM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v3.105 DPM1 Arina Puzriakova Phenotypes for gene: DPM1 were changed from congenital muscular dystrophies to Congenital disorder of glycosylation, type Ie, OMIM:608799
Arthrogryposis v3.104 EBP Arina Puzriakova Phenotypes for gene: EBP were changed from Chondrodysplasia punctata, X-linked dominant, MIM# 302960 to Chondrodysplasia punctata, X-linked dominant, OMIM:302960
Arthrogryposis v3.103 EBP Arina Puzriakova Mode of inheritance for gene: EBP was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Arthrogryposis v3.102 EBP Arina Puzriakova Tag Q2_21_expert_review tag was added to gene: EBP.
Arthrogryposis v3.102 EBP Arina Puzriakova Classified gene: EBP as Amber List (moderate evidence)
Arthrogryposis v3.102 EBP Arina Puzriakova Added comment: Comment on list classification: EBP will be flagged for GMS review to assess whether there is enough evidence and potential clinical value to rate as Green on this panel.

Flexion contractures may occur is a subset of patients with variants in this gene. However, as other manifestations such as skeletal malformations and skin abnormalities represent more prominent features of the disorder, it is less likely that cases would be tested under the Arthrogryposis panel. EBP is already Green on other relevant panels (Skeletal dysplasia v2.100, Palmoplantar keratodermas v1.7, etc).
Arthrogryposis v3.102 EBP Arina Puzriakova Gene: ebp has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.101 ISLR2 Arina Puzriakova Classified gene: ISLR2 as Red List (low evidence)
Arthrogryposis v3.101 ISLR2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Single family reported in PMID: 30483960 with congenital hydrocephalus, arthrogryposis and abdominal distension and a homozygous a frameshift deletion that segregated with disease. Knockout mouse model recapitulates some features of the human phenotype, i.e. hydrocephalus (PMID: 29739947).

Rating Red, awaiting further cases.
Arthrogryposis v3.101 ISLR2 Arina Puzriakova Gene: islr2 has been classified as Red List (Low Evidence).
Arthrogryposis v3.100 TSEN54 Arina Puzriakova Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia type 4 225753 to Pontocerebellar hypoplasia type 4, OMIM:225753
Arthrogryposis v3.99 TSEN54 Arina Puzriakova Publications for gene: TSEN54 were set to
Arthrogryposis v3.98 ERBB3 Sarah Leigh edited their review of gene: ERBB3: Added comment: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene for Lethal congenital contractural syndrome 2 OMIM:607598 and as a confirmed gene for Hirschprung disease with intestinal pseudo-obstruction. At least 7 variants reported in at least 4 unrelated cases.; Changed rating: GREEN
Arthrogryposis v3.98 ERBB3 Sarah Leigh Tag Q2_21_rating tag was added to gene: ERBB3.
Arthrogryposis v3.98 ERBB3 Sarah Leigh Classified gene: ERBB3 as Amber List (moderate evidence)
Arthrogryposis v3.98 ERBB3 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Arthrogryposis v3.98 ERBB3 Sarah Leigh Gene: erbb3 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.97 ERBB3 Sarah Leigh Publications for gene: ERBB3 were set to 17701904; 12519750
Arthrogryposis v3.96 ERBB3 Sarah Leigh Phenotypes for gene: ERBB3 were changed from Lethal congenital contractural syndrome 2 607598 to ?Lethal congenital contractural syndrome 2 OMIM:607598; lethal congenital contracture syndrome 2 MONDO:0011868
Arthrogryposis v3.95 FBN2 Sarah Leigh reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v3.95 FBN2 Sarah Leigh Publications for gene: FBN2 were set to 7493032; 33571691
Arthrogryposis v3.94 FBN2 Sarah Leigh Tag Q2_21_MOI tag was added to gene: FBN2.
Arthrogryposis v3.94 FBN2 Sarah Leigh Phenotypes for gene: FBN2 were changed from Contractural arachnodactyly, congenital 121050 to Contractural arachnodactyly, congenital OMIM:121050; congenital contractural arachnodactyly MONDO:0007363
Arthrogryposis v3.93 FBN2 Sarah Leigh Publications for gene: FBN2 were set to 7493032
Arthrogryposis v3.92 DPM2 Arina Puzriakova Phenotypes for gene: DPM2 were changed from congenital muscular dystrophies; congenital muscular dystrophies. DPM2-CDG . Musclular dystrophy dystroglycanopathy syndrome with severe epilepsy. to Congenital disorder of glycosylation, type Iu, OMIM:615042
Arthrogryposis v3.91 ERBB3 Zornitza Stark reviewed gene: ERBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33720042; Phenotypes: Hirschsprung disease, arthrogryposis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v3.91 FBN2 Zornitza Stark reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33571691; Phenotypes: Contractural arachnodactyly, congenital MIM#121050; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Arthrogryposis v3.91 STAC3 Arina Puzriakova Publications for gene: STAC3 were set to 23736855
Arthrogryposis v3.90 UNC50 Arina Puzriakova Classified gene: UNC50 as Red List (low evidence)
Arthrogryposis v3.90 UNC50 Arina Puzriakova Added comment: Comment on list classification: Rating Red awaiting further evidence. Only a single variant described in 2 individuals (PMIDs: 29016857; 33820833). Additional cases with different variants or strong functional support required to validate pathogenicity.
Arthrogryposis v3.90 UNC50 Arina Puzriakova Gene: unc50 has been classified as Red List (Low Evidence).
Arthrogryposis v3.89 UNC50 Arina Puzriakova Classified gene: UNC50 as Amber List (moderate evidence)
Arthrogryposis v3.89 UNC50 Arina Puzriakova Gene: unc50 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.88 UNC50 Arina Puzriakova gene: UNC50 was added
gene: UNC50 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: UNC50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC50 were set to 29016857; 33820833
Phenotypes for gene: UNC50 were set to Arthrogryposis multiplex congenita
Review for gene: UNC50 was set to AMBER
Added comment: UNC50 is currently not associated with any phenotype in OMIM (last edited on 02/01/2018) or Gene2Phenotype.

- PMID: 29016857 (2017) - Homozygosity mapping of disease loci combined with WES in a single male from a consanguineous family presenting with lethal AMC revealed a homozygous frameshift deletion in UNC50 gene (c.750_751del:p.Cys251Phefs*4). Functional studies in C. elegans showed the variant caused loss of acetylcholine receptor expression in the muscle.

- PMID: 33820833 (2021) - Single individual reported with the same homozygous c.750_751del:p.Cys251Phefs*4 variant in UNC50 as previously described. The case was identified from a cohort of 315 genetically undiagnosed and unrelated AMC families. Arthrogryposis and tetra ventricular dilation were detected prenatally.

-- Note: it isn't definitively clear whether these are different individuals. Both are singleton males born to consanguineous parents, with the same variant and similar phenotype. Also both infants died at 28 w.g. However, the 2021 paper (PMID:33820833) states their patient was selected from a cohort of cases without a molecular diagnosis and indicate the UNC50 gene had already previously been identified in relation to this phenotype, highlighting the earlier paper (PMID:29016857). There is also no mention of tetra ventricular dilation in the first case, so it is likely that these do represent distinct individuals. Additional cases needed to provide clarity.
Sources: Literature
Arthrogryposis v3.87 MAGEL2 Arina Puzriakova Publications for gene: MAGEL2 were set to 26365340; 27195816; 31504653; 29359444; 24076603
Arthrogryposis v3.86 MAGEL2 Arina Puzriakova Phenotypes for gene: MAGEL2 were changed from Schaaf-Yang syndrome, 615547; ARTHROGRYPOSIS MULTIPLEX CONGENITA; Prader-Willi-Like syndrome to Schaaf-Yang syndrome, OMIM:615547; Prader-Willi-Like syndrome
Arthrogryposis v3.85 LMOD3 Arina Puzriakova Phenotypes for gene: LMOD3 were changed from Nemaline myopathy 10 616165 to Nemaline myopathy 10, OMIM:616165
Arthrogryposis v3.84 LMOD3 Arina Puzriakova Publications for gene: LMOD3 were set to 25250574
Arthrogryposis v3.83 LGI4 Arina Puzriakova Phenotypes for gene: LGI4 were changed from Arthrogryposis Multiplex Congenita; Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468; AMCNMY to Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect, OMIM:617468
Arthrogryposis v3.82 LGI4 Arina Puzriakova Publications for gene: LGI4 were set to 28318499; 15857855; 16341215
Arthrogryposis v3.81 GLDN Arina Puzriakova Phenotypes for gene: GLDN were changed from Lethal congenital contracture syndrome 11 617194 to Lethal congenital contracture syndrome 11, OMIM:617194
Arthrogryposis v3.80 GLDN Arina Puzriakova Publications for gene: GLDN were set to 27616481
Arthrogryposis v3.79 CNTNAP1 Arina Puzriakova Phenotypes for gene: CNTNAP1 were changed from Lethal congenital contracture syndrome 7 616286 to Lethal congenital contracture syndrome 7, OMIM:616286
Arthrogryposis v3.78 CNTNAP1 Arina Puzriakova Publications for gene: CNTNAP1 were set to 24319099
Arthrogryposis v3.77 ADCY6 Arina Puzriakova Publications for gene: ADCY6 were set to 24319099; 26257172; 31846058
Arthrogryposis v3.76 ADCY6 Arina Puzriakova edited their review of gene: ADCY6: Added comment: - PMID: 33820833 (2021) - Further 2 sibs reported with a homozygous c.3346C>T:p.Arg1116Cys variant in the ADCY6 gene. The family was identified from a cohort of 315 genetically undiagnosed and unrelated AMC families. Arthrogryposis and IUGR were detected prenatally.; Changed rating: GREEN; Changed publications: 24319099, 26257172, 31846058, 33820833; Changed phenotypes: Lethal congenital contracture syndrome 8, OMIM:616287; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v3.76 KIDINS220 Eleanor Williams Tag Q2_21_rating tag was added to gene: KIDINS220.
Arthrogryposis v3.76 KIDINS220 Eleanor Williams Classified gene: KIDINS220 as Amber List (moderate evidence)
Arthrogryposis v3.76 KIDINS220 Eleanor Williams Added comment: Comment on list classification: Promoting this gene from red to amber, but with the recommendation of a green rating following GMS review. 3 cases reported plus a supportive mouse model.
Arthrogryposis v3.76 KIDINS220 Eleanor Williams Gene: kidins220 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.75 KIDINS220 Eleanor Williams gene: KIDINS220 was added
gene: KIDINS220 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: KIDINS220 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIDINS220 were set to 32909676; 33205811; 28934391; 22048169
Phenotypes for gene: KIDINS220 were set to brain ventriculomegaly and limb contractures
Review for gene: KIDINS220 was set to GREEN
Added comment: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases.

3 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap:

PMID: 32909676 - El-Dessouky et al 2020 - report a consanguineous family of Egyptian origin with several miscarriages. Prenatal ultrasonography revealed limb contractions and ventriculomegaly aswell as cerebellar anomalies, cardiac anomalies and hydrops fetalis. Using WES a homozygous deleterious frameshift variant (c.208del; p.Asp70Ilefs*18) in KIDINS220 gene was identified. Both parents were heterozygous for this variant.

PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation.

PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein.

PMID: 22048169 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.
Sources: Literature
Arthrogryposis v3.74 MYLPF Arina Puzriakova Tag watchlist tag was added to gene: MYLPF.
Arthrogryposis v3.74 MYLPF Arina Puzriakova edited their review of gene: MYLPF: Changed rating: AMBER
Arthrogryposis v3.74 MYLPF Arina Puzriakova Classified gene: MYLPF as Amber List (moderate evidence)
Arthrogryposis v3.74 MYLPF Arina Puzriakova Added comment: Comment on list classification: Given there are 6 families and different ethnic backgrounds, the biallelic form technically reaches the threshold for inclusion as Green. However, it should be considered that only the residue Cys157 has been implicated to date and the mechanism of pathogenicity is not clear.

Therefore rating Amber awaiting additional cases/functional evidence and further assessment by the GMS expert team to determine the most appropriate rating in view of the current evidence (tagged for 'expert-review')
Arthrogryposis v3.74 MYLPF Arina Puzriakova Gene: mylpf has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.73 MYLPF Arina Puzriakova Tag Q2_21_expert_review tag was added to gene: MYLPF.
Arthrogryposis v3.73 MYLPF Arina Puzriakova Added comment: Comment on mode of inheritance: Following consultation with Helen Brittain (Genomics England Clinical Team) it was agreed that in view of only 2 families with arthrogryposis and monoallelic variants in this gene there is currently not enough evidence to support inclusion of the monoallelic form. More cases or a delineation of the mechanism of pathogenicity are required before considering adding this as an MOI.
Arthrogryposis v3.73 MYLPF Arina Puzriakova Mode of inheritance for gene: MYLPF was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v3.72 MYLPF Arina Puzriakova reviewed gene: MYLPF: Rating: ; Mode of pathogenicity: None; Publications: 32707087; Phenotypes: Arthrogryposis, distal, type 1C, OMIM:619110, Arthrogryposis, distal, type 1C, MONDO:0030847; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v3.72 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
Arthrogryposis v3.72 C12orf65 Catherine Snow commented on gene: C12orf65
Arthrogryposis v3.72 MYLPF Arina Puzriakova Tag watchlist was removed from gene: MYLPF.
Arthrogryposis v3.72 MYLPF Arina Puzriakova Tag watchlist tag was added to gene: MYLPF.
Arthrogryposis v3.72 MYLPF Arina Puzriakova Phenotypes for gene: MYLPF were changed from Distal arthrogryoposis to Arthrogryposis, distal, type 1C, OMIM:619110; Arthrogryposis, distal, type 1C, MONDO:0030847
Arthrogryposis v3.71 SYNE1 Arina Puzriakova Publications for gene: SYNE1 were set to
Arthrogryposis v3.70 SYNE1 Arina Puzriakova Classified gene: SYNE1 as Amber List (moderate evidence)
Arthrogryposis v3.70 SYNE1 Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber but there is sufficient evidence to promote to Green at the next GMS panel update.
Arthrogryposis v3.70 SYNE1 Arina Puzriakova Gene: syne1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.69 SYNE1 Arina Puzriakova Tag Q2_21_rating tag was added to gene: SYNE1.
Arthrogryposis v3.69 SYNE1 Arina Puzriakova reviewed gene: SYNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19542096, 24319099, 27782104; Phenotypes: Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484, Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v3.69 SYNE1 Arina Puzriakova Phenotypes for gene: SYNE1 were changed from Emery-Dreifuss Muscular Dystrophy; Spinocerebellar ataxia, autosomal recessive 8, 610743 to Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484; Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778
Arthrogryposis v3.68 SYNE1 Arina Puzriakova Mode of inheritance for gene: SYNE1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v3.67 SCN4A Arina Puzriakova Phenotypes for gene: SCN4A were changed from Congenital Myasthenic Syndrome, Recessive; Hyperkalemic periodic paralysis, type 2, 170500 to Myasthenic syndrome, congenital, 16, OMIM:614198, Congenital myasthenic syndrome 16, MONDO:0013620
Arthrogryposis v3.66 SCN4A Arina Puzriakova commented on gene: SCN4A
Arthrogryposis v3.66 MYL1 Arina Puzriakova Publications for gene: MYL1 were set to
Arthrogryposis v3.65 MYL1 Arina Puzriakova Classified gene: MYL1 as Green List (high evidence)
Arthrogryposis v3.65 MYL1 Arina Puzriakova Added comment: Comment on list classification: Only mild contractures described in 1/2 individuals with variants in this gene. Therefore, there is only enough evidence for a RED rating on this panel at present. These cases would still expected to be picked up via the 'Congenital myopathy' or 'Fetal anomalies' routes for which this gene is Green.
Arthrogryposis v3.65 MYL1 Arina Puzriakova Gene: myl1 has been classified as Green List (High Evidence).
Arthrogryposis v3.64 MYL1 Arina Puzriakova Tag Q2_21_rating tag was added to gene: MYL1.
Arthrogryposis v3.64 MYL1 Arina Puzriakova commented on gene: MYL1
Arthrogryposis v3.64 MYO9A Arina Puzriakova Phenotypes for gene: MYO9A were changed from Arthrogryposis; OrphaNet: ORPHA109007 to Myasthenic syndrome, congenital, 24, presynaptic, OMIM:618198; Myasthenic syndrome, congenital, 24, presynaptic, MONDO:0032597
Arthrogryposis v3.63 MYMK Arina Puzriakova Phenotypes for gene: MYMK were changed from Carey-Fineman-Ziter syndrome 254940 to Carey-Fineman-Ziter syndrome, OMIM:254940; Carey-Fineman-Ziter syndrome, MONDO:0009700
Arthrogryposis v3.62 MYL1 Arina Puzriakova Phenotypes for gene: MYL1 were changed from congenital myopathy to Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414; Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109
Arthrogryposis v3.61 MYH2 Arina Puzriakova Tag for-review tag was added to gene: MYH2.
Arthrogryposis v3.61 MYH2 Arina Puzriakova Publications for gene: MYH2 were set to 23489661; 24193343,20418530
Arthrogryposis v3.60 MYH2 Arina Puzriakova Publications for gene: MYH2 were set to PMC18967; 24193343,
Arthrogryposis v3.59 MYH2 Arina Puzriakova Added comment: Comment on mode of inheritance: Independent reports of both biallelic (PMIDs: 20418530; 24193343) and monoallelic cases (PMIDs: 23489661) with joint contractures. MOI should therefore be changed from 'Monoallelic' to 'Both monoallelic and biallelic' at the next GMS panel update (added 'for-review' tag)
Arthrogryposis v3.59 MYH2 Arina Puzriakova Mode of inheritance for gene: MYH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Arthrogryposis v3.58 MYH2 Arina Puzriakova Phenotypes for gene: MYH2 were changed from Proximal myopathy and ophthalmoplegia 605637 to Proximal myopathy and ophthalmoplegia, OMIM:605637; Myopathy, proximal, and ophthalmoplegia, MONDO:0011577
Arthrogryposis v3.57 TOR1A Arina Puzriakova Phenotypes for gene: TOR1A were changed from arthrogryposis with developmental delay, strabismus and tremor; Dystonia-1, torsion, 128100 to Arthrogryposis multiplex congenita 5, OMIM:618947; Arthrogryposis multiplex congenita 5, MONDO:0100218; Dystonia-1, torsion, OMIM:128100; Dystonic disorder, MONDO:0003441
Arthrogryposis v3.56 TNNT3 Arina Puzriakova Phenotypes for gene: TNNT3 were changed from Arthrogryposis Multiplex Congenita; Distal Arthrogryposis Multiplex Congenita; Distal Arthrogryposis Type 1; Distal Arthrogryposis Type 2B to Arthrogryposis, distal, type 2B2, OMIM:618435; Arthrogryposis, distal, type 2B2, MONDO:0032750
Arthrogryposis v3.55 ERCC5 Arina Puzriakova Phenotypes for gene: ERCC5 were changed from Cerebrooculofacioskeletal syndrome 3, 616570 to Cerebrooculofacioskeletal syndrome 3, OMIM:616570; Cerebrooculofacioskeletal syndrome 3, MONDO:0014696
Arthrogryposis v3.54 ERCC5 Arina Puzriakova Publications for gene: ERCC5 were set to 9096355; 24700531
Arthrogryposis v3.53 ERCC5 Arina Puzriakova Classified gene: ERCC5 as Amber List (moderate evidence)
Arthrogryposis v3.53 ERCC5 Arina Puzriakova Added comment: Comment on list classification: There is enough evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag) - sufficient unrelated families (4) with multiple fetuses affected by COFS3, including arthrogryposis.
Arthrogryposis v3.53 ERCC5 Arina Puzriakova Gene: ercc5 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.52 ERCC5 Arina Puzriakova Tag for-review tag was added to gene: ERCC5.
Arthrogryposis v3.52 ERCC5 Arina Puzriakova reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 24700531, 32052936, 32557569; Phenotypes: Cerebrooculofacioskeletal syndrome 3, OMIM:616570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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 v3.48 FLNC Ivone Leong Tag for-review tag was added to gene: FLNC.
Arthrogryposis v3.48 NUP88 Arina Puzriakova Phenotypes for gene: NUP88 were changed from Fetal akinesia deformation sequence 4, MIM# 618393 to Fetal akinesia deformation sequence 4, OMIM:618393; Fetal akinesia deformation sequence 4, MONDO:0100104
Arthrogryposis v3.47 NUP88 Arina Puzriakova Classified gene: NUP88 as Amber List (moderate evidence)
Arthrogryposis v3.47 NUP88 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Two unrelated families with lethal FADS and different biallelic variants in the NUP88 gene (PMID: 30543681). Zebrafish model recapitulated some human phenotypes such as locomotor and neuromuscular junction defects.

NUP88 is associated with a relevant phenotype in OMIM but is not currently in Gene2Phenotype. Rating Amber awaiting additional cases prior to inclusion as diagnostic-grade.
Arthrogryposis v3.47 NUP88 Arina Puzriakova Gene: nup88 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.46 NEK9 Arina Puzriakova commented on gene: NEK9: NEK9 is associated with relevant phenotypes in OMIM (MIM# 614262 and 617022) but currently is not in Gene2Phenotype.
Arthrogryposis v3.46 NEK9 Arina Puzriakova Publications for gene: NEK9 were set to 26633546; 21271645; 26908619
Arthrogryposis v3.45 NEK9 Arina Puzriakova Classified gene: NEK9 as Amber List (moderate evidence)
Arthrogryposis v3.45 NEK9 Arina Puzriakova Added comment: Comment on list classification: With addition of the recent report, there are now at least 3 unrelated families presenting arthrogryposis and different biallelic variants in this gene. This now reaches threshold for inclusion, and therefore NEK9 should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Arthrogryposis v3.45 NEK9 Arina Puzriakova Gene: nek9 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.44 NEK9 Arina Puzriakova Tag for-review tag was added to gene: NEK9.
Arthrogryposis v3.44 NEK9 Arina Puzriakova edited their review of gene: NEK9: Added comment: Deden et al. 2020 (PMID: 32333414) report a further family with two consecutive prenatal presentations with compound heterozygous NEK9 variants. Both fetuses had arthrogryposis.

Both variants were reported as VUS when detected in the first fetus, which initially presented with 'short long bones, bowed femur, micrognathia, talipes and deviated hand' but re-evaluated after the phenotype progressed to arthrogryposis and then the next pregnancy showed the same ultrasound abnormalities and the same compound het variants. At this point the authors felt this represented a conclusive diagnosis.; Changed rating: GREEN; Changed publications: 26908619, 21271645, 26633546, 32333414; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v3.44 ATP1A2 Arina Puzriakova Classified gene: ATP1A2 as Amber List (moderate evidence)
Arthrogryposis v3.44 ATP1A2 Arina Puzriakova Added comment: Comment on list classification: Two additional unrelated families reported by Chatron et al PMID: 31608932 with affected fetuses described as having polymicrogyria, microcephaly, polyhydramnios and FADS. Two individuals from one family also presented hand contractures and rocker-bottom feet, bringing the total to 3 unrelated families with relevant phenotype.

As number of cases now reaches threshold for inclusion as diagnostic-grade, ATP1A2 should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Arthrogryposis v3.44 ATP1A2 Arina Puzriakova Gene: atp1a2 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.43 ATP1A2 Arina Puzriakova Publications for gene: ATP1A2 were set to 30690204
Arthrogryposis v3.42 ATP1A2 Arina Puzriakova Tag for-review tag was added to gene: ATP1A2.
Arthrogryposis v3.42 FLNC Arina Puzriakova Phenotypes for gene: FLNC were changed from Myopathy, myofibrillar, 5, 609524 to Cardiomyopathy, familial hypertrophic, 26, OMIM:617047; Cardiomyopathy, familial restrictive 5, OMIM:617047; Hypertrophic cardiomyopathy 26, MONDO:0014883; Myopathy, distal, 4, OMIM:614065; Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550; Myopathy, myofibrillar, 5, OMIM:609524; Myopathy, myofibrillar, 5, MONDO:0012289
Arthrogryposis v3.41 FLNC Arina Puzriakova Classified gene: FLNC as Amber List (moderate evidence)
Arthrogryposis v3.41 FLNC Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber, but should be promoted to Green at the next GMS panel update (added 'for-review' tag). PMID: 29858533 reports on 3 unrelated individuals who presented at birth with arthrogryposis. This was evident prior to other FLNC-related features such as muscle weakness and cardiomyopathy, and so it is plausible that these cases may be tested in the context of this clinical indication.
Arthrogryposis v3.41 FLNC Arina Puzriakova Gene: flnc has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.40 FLNC Arina Puzriakova Publications for gene: FLNC were set to
Arthrogryposis v3.39 FLNC Arina Puzriakova Mode of inheritance for gene: FLNC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Arthrogryposis v3.38 TBCD Arina Puzriakova Phenotypes for gene: TBCD were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193; Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646
Arthrogryposis v3.37 TBCD Arina Puzriakova Publications for gene: TBCD were set to
Arthrogryposis v3.36 TBCD Arina Puzriakova Classified gene: TBCD as Red List (low evidence)
Arthrogryposis v3.36 TBCD Arina Puzriakova Added comment: Comment on list classification: Maintaining the Red rating on this panel as curation of published literature revealed only a single report of an individual with multiple arthrogryposis (individual II-2 from PMID:27666374). This disorder is better represented by other panels for which this gene is already Green (Genetic epilepsy syndromes, Intellectual disability, etc).
Arthrogryposis v3.36 TBCD Arina Puzriakova Gene: tbcd has been classified as Red List (Low Evidence).
Arthrogryposis v3.35 TBCD Arina Puzriakova Mode of inheritance for gene: TBCD was changed from to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v3.34 TRIP4 Arina Puzriakova Phenotypes for gene: TRIP4 were changed from Spinal muscular atrophy with congenital bone fractures 1, 616866 to Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866; Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209; Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806
Arthrogryposis v3.33 TRIP4 Arina Puzriakova Classified gene: TRIP4 as Amber List (moderate evidence)
Arthrogryposis v3.33 TRIP4 Arina Puzriakova Added comment: Comment on list classification: Three families with multiple congenital contractures among other features associated with variants in this gene (PMID: 26924529). However, a founder effect was suspected in the two Kosovo families and therefore this can only be considered as 2 cases total. Maintaining Amber rating, awaiting further cases/clinical evidence.
Arthrogryposis v3.33 TRIP4 Arina Puzriakova Gene: trip4 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.32 HSPG2 Arina Puzriakova Phenotypes for gene: HSPG2 were changed from Schwartz-Jampel syndrome, type 1 255800 to Schwartz-Jampel syndrome, type 1, OMIM:255800; Schwartz-Jampel syndrome, MONDO:0009717
Arthrogryposis v3.31 SCYL2 Arina Puzriakova Tag watchlist tag was added to gene: SCYL2.
Arthrogryposis v3.31 SCYL2 Arina Puzriakova Classified gene: SCYL2 as Amber List (moderate evidence)
Arthrogryposis v3.31 SCYL2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). 2 unrelated families reported at present with different SCYL2 variants and a syndromic form of severe AMC comprising microcephaly, absent corpus callosum, optic atrophy, limb fractures, profound GDD, and early lethality. Rating Amber as additional cases required before inclusion on a diagnostic panel (added 'watchlist' tag).
Arthrogryposis v3.31 SCYL2 Arina Puzriakova Gene: scyl2 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.30 SCYL2 Arina Puzriakova Phenotypes for gene: SCYL2 were changed from Arthrogryposis multiplex congenita (AMC); Zain syndrome to Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, OMIM:618766; Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MONDO:0032903
Arthrogryposis v3.29 TOR1AIP1 Arina Puzriakova Phenotypes for gene: TOR1AIP1 were changed from joint contractures; ?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, 617072 to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072; Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900
Arthrogryposis v3.28 TOR1AIP1 Arina Puzriakova Publications for gene: TOR1AIP1 were set to 24856141
Arthrogryposis v3.27 TOR1AIP1 Arina Puzriakova Tag for-review tag was added to gene: TOR1AIP1.
Arthrogryposis v3.27 TOR1AIP1 Arina Puzriakova Classified gene: TOR1AIP1 as Amber List (moderate evidence)
Arthrogryposis v3.27 TOR1AIP1 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update (added 'for-review' tag). Joint contractures observed in at least 4/6 families reported to date (when considering 5 kindreds with same founder variant collectively).
Arthrogryposis v3.27 TOR1AIP1 Arina Puzriakova Gene: tor1aip1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.26 TOR1AIP1 Arina Puzriakova reviewed gene: TOR1AIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24856141, 27342937, 30723199, 31299614, 32055997; Phenotypes: Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v3.26 ADCY6 Arina Puzriakova Phenotypes for gene: ADCY6 were changed from Lethal congenital contracture syndrome 8 616287 to Lethal congenital contracture syndrome 8, OMIM:616287; Lethal congenital contracture syndrome 8, MONDO:0014570
Arthrogryposis v3.25 ADCY6 Arina Puzriakova Publications for gene: ADCY6 were set to 24319099
Arthrogryposis v3.24 ADCY6 Arina Puzriakova Tag for-review tag was added to gene: ADCY6.
Arthrogryposis v3.24 ADCY6 Arina Puzriakova Classified gene: ADCY6 as Amber List (moderate evidence)
Arthrogryposis v3.24 ADCY6 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update (added 'for-review' tag). At least 4 individuals from 3 unrelated families with distal AMC and distinct variants in the ADCY6 gene.
Arthrogryposis v3.24 ADCY6 Arina Puzriakova Gene: adcy6 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.23 NEK9 Arina Puzriakova Phenotypes for gene: NEK9 were changed from Arthrogryposis, Perthes disease, and upward gaze palsy 614262 to ?Arthrogryposis, Perthes disease, and upward gaze palsy, OMIM:614262; Arthrogryposis, Perthes disease, and upward gaze palsy, MONDO:0013660; Lethal congenital contracture syndrome 10, OMIM:617022; NEK9-related lethal skeletal dysplasia, MONDO:0014870
Arthrogryposis v3.22 NEK9 Arina Puzriakova Publications for gene: NEK9 were set to 26633546; 21271645
Arthrogryposis v3.21 NEK9 Arina Puzriakova Classified gene: NEK9 as Amber List (moderate evidence)
Arthrogryposis v3.21 NEK9 Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber in line with the recent review by Rhiannon Mellis (GOSH). Additional cases/clinical evidence required before inclusion on a diagnostic panel.
Arthrogryposis v3.21 NEK9 Arina Puzriakova Gene: nek9 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.20 MYH7 Arina Puzriakova Phenotypes for gene: MYH7 were changed from Laing Distal Myopathy; Cardiomyopathy, familial hypertrophic, 1, 192600; Myopathy, myosin storage, autosomal recessive 255160; Myopathy, myosin storage, autosomal dominant 608358 to Laing distal myopathy, OMIM:160500; Laing early-onset distal myopathy, MONDO:0008050
Arthrogryposis v3.19 MYH7 Arina Puzriakova Classified gene: MYH7 as Green List (high evidence)
Arthrogryposis v3.19 MYH7 Arina Puzriakova Added comment: Comment on list classification: This gene will be flagged for review at the next GMS panel update (added 'for-review' tag) as variants are associated with distal myopathy rather than arthrogryposis and therefore MYH7 should be demoted to RED on this panel.
Arthrogryposis v3.19 MYH7 Arina Puzriakova Gene: myh7 has been classified as Green List (High Evidence).
Arthrogryposis v3.18 MYH7 Arina Puzriakova Tag for-review tag was added to gene: MYH7.
Arthrogryposis v3.18 SCN1A Arina Puzriakova Classified gene: SCN1A as Amber List (moderate evidence)
Arthrogryposis v3.18 SCN1A Arina Puzriakova Added comment: Comment on list classification: There are sufficient unrelated cases (4) reported in 2 papers (PMIDs: 32928894 and 29543227) with ACM and variants in this gene.

It is anticipated that early-onset seizures likely represent the predominant feature of the disease presentation (already Green on the Genetic epilepsy syndromes panel), however this gene will be flagged for review to assess whether inclusion on this panel is likely to be of clinical benefit.
Arthrogryposis v3.18 SCN1A Arina Puzriakova Gene: scn1a has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.17 SCN1A Arina Puzriakova Phenotypes for gene: SCN1A were changed from Arthrogryposis multiplex congenita to Arthrogryposis multiplex congenita; Dravet syndrome, OMIM:607208
Arthrogryposis v3.16 SCN1A Arina Puzriakova Publications for gene: SCN1A were set to 32928894
Arthrogryposis v3.15 SCN1A Arina Puzriakova Tag for-review tag was added to gene: SCN1A.
Arthrogryposis v3.15 LMX1B Arina Puzriakova Classified gene: LMX1B as Amber List (moderate evidence)
Arthrogryposis v3.15 LMX1B Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Arthrogryposis v3.15 LMX1B Arina Puzriakova Gene: lmx1b has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.14 LMX1B Arina Puzriakova Tag for-review tag was added to gene: LMX1B.
Arthrogryposis v3.14 NEK9 Rhiannon Mellis reviewed gene: NEK9: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 26908619; Phenotypes: Lethal congenital contracture syndrome 10; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v3.14 SMN1 Eleanor Williams Publications for gene: SMN1 were set to 27911332; 10700538; 11826188; 8787675
Arthrogryposis v3.13 SMN1 Eleanor Williams edited their review of gene: SMN1: Changed phenotypes: Spinal muscular atrophy
Arthrogryposis v3.13 SMN1 Eleanor Williams reviewed gene: SMN1: Rating: ; Mode of pathogenicity: None; Publications: 32644125, 32644120; Phenotypes: ; Mode of inheritance: None
Arthrogryposis v3.13 SCN1A Zornitza Stark edited their review of gene: SCN1A: Changed phenotypes: Arthrogryposis multiplex congenita, Dravet syndrome, MIM# 607208
Arthrogryposis v3.13 SCN1A Zornitza Stark reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32928894, 29543227; Phenotypes: Arthrogryposis multiplex congenita; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v3.13 SCN1A Arina Puzriakova commented on gene: SCN1A: Note SCN1A is a well-established cause of Dravet syndrome, MIM# 607208
Arthrogryposis v3.13 SCN1A Arina Puzriakova changed review comment from: Comment on list classification: Association with this phenotype currently based on a single publication, although reporting 3 unrelated cases.

Rating Amber, awaiting further publications/clinical evidence to validate this gene-disease association.; to: Comment on list classification: Association with this phenotype currently based on a single publication, although reporting 3 unrelated cases.

Rating Amber, awaiting further publications/clinical evidence to validate this gene-disease relationship.
Arthrogryposis v3.13 SCN1A Arina Puzriakova Classified gene: SCN1A as Amber List (moderate evidence)
Arthrogryposis v3.13 SCN1A Arina Puzriakova Added comment: Comment on list classification: Association with this phenotype currently based on a single publication, although reporting 3 unrelated cases.

Rating Amber, awaiting further publications/clinical evidence to validate this gene-disease association.
Arthrogryposis v3.13 SCN1A Arina Puzriakova Gene: scn1a has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.12 SCN1A Arina Puzriakova gene: SCN1A was added
gene: SCN1A was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCN1A were set to 32928894
Phenotypes for gene: SCN1A were set to Arthrogryposis multiplex congenita
Review for gene: SCN1A was set to AMBER
Added comment: PMID: 32928894 (2020) - De novo missense variants in SCN1A (p.Leu893Phe, p.Ala989Thr, p.Ile236Thr) were identified in three unrelated patients with AMC which was diagnosed from the second trimester of pregnancy. One patient developed intractable epilepsy from birth and died at 21 days, while the other two pregnancies were terminated. No functional studies of the variants or patient cells were performed.
Sources: Literature
Arthrogryposis v3.11 MYLPF Zornitza Stark gene: MYLPF was added
gene: MYLPF was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: MYLPF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYLPF were set to 32707087
Phenotypes for gene: MYLPF were set to Distal arthrogryoposis
Review for gene: MYLPF was set to AMBER
Added comment: 2 different homozygous variants reported in 6 consanguineous families with DA and an additional 2 different dominantly inherited variants in 2 families, with supporting animal model. Overall neither MOI data sufficient for Green rating.
Sources: Literature
Arthrogryposis v3.11 TRIP4 Zornitza Stark reviewed gene: TRIP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26924529; Phenotypes: Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Arthrogryposis v3.11 TBCD Zornitza Stark reviewed gene: TBCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 27666370, 27666374; Phenotypes: Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM# 617193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v3.11 SYNE1 Zornitza Stark reviewed gene: SYNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27782104; Phenotypes: Distal arthrogryposis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Arthrogryposis v3.11 SCN4A Zornitza Stark reviewed gene: SCN4A: Rating: RED; Mode of pathogenicity: None; Publications: 26700687; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v3.11 NUP88 Zornitza Stark gene: NUP88 was added
gene: NUP88 was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: NUP88 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP88 were set to 30543681
Phenotypes for gene: NUP88 were set to Fetal akinesia deformation sequence 4, MIM# 618393
Review for gene: NUP88 was set to GREEN
gene: NUP88 was marked as current diagnostic
Added comment: Two unrelated families, functional data on the variants support pathogenicity as does a zebrafish model.
Sources: Expert list
Arthrogryposis v3.11 MYL1 Zornitza Stark reviewed gene: MYL1: Rating: RED; Mode of pathogenicity: None; Publications: 30215711; Phenotypes: Myopathy, congenital, with fast-twitch (type II) fiber atrophy, MIM# 618414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v3.11 MED12 Zornitza Stark gene: MED12 was added
gene: MED12 was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MED12 were set to 20301719
Phenotypes for gene: MED12 were set to MED12-related disorders
Review for gene: MED12 was set to GREEN
gene: MED12 was marked as current diagnostic
Added comment: Contractures are a recognised feature.
Sources: Expert list
Arthrogryposis v3.11 ISLR2 Zornitza Stark gene: ISLR2 was added
gene: ISLR2 was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: ISLR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISLR2 were set to 30483960
Phenotypes for gene: ISLR2 were set to hydrocephalus; arthrogryposis
Review for gene: ISLR2 was set to AMBER
Added comment: Single consanguineous family with hydrocephalus and arthrogryposis and homozygous truncating variant, mouse model has hydrocephalus
Sources: Expert list
Arthrogryposis v3.11 FLNC Zornitza Stark reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: None; Publications: 29858533; Phenotypes: Cardiomyopathy, familial restrictive 5 617047, Myopathy, distal, 4 614065, Myopathy, myofibrillar, 5 609524; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arthrogryposis v3.11 FLNA Zornitza Stark gene: FLNA was added
gene: FLNA was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: FLNA 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: FLNA were set to 26804200; 30561107; 20301567
Phenotypes for gene: FLNA were set to FLNA-related disorders; Otopalatodigital syndrome, type I 311300; Otopalatodigital syndrome, type II 304120; Terminal osseous dysplasia 300244
Review for gene: FLNA was set to GREEN
Added comment: Contractures are part of the phenotype of some FLNA-related disorders, in particular otopalatodigital syndrome and terminal osseous dysplasia.
Sources: Expert list
Arthrogryposis v3.11 ERCC5 Zornitza Stark changed review comment from: Single family reported with 5 affected fetuses and severe COFS including arthrogryposis.; to: A family reported with 5 affected fetuses and severe COFS including arthrogryposis in PMID:24700531. Further two included in a recent review of severe neonatal presentations of nucleotide excision-repair disorders (PMID:32557569).
Arthrogryposis v3.11 ERCC5 Zornitza Stark edited their review of gene: ERCC5: Changed rating: GREEN; Changed publications: 24700531, 32557569
Arthrogryposis v3.11 ERCC5 Zornitza Stark reviewed gene: ERCC5: Rating: AMBER; Mode of pathogenicity: None; Publications: 24700531; Phenotypes: Cerebrooculofacioskeletal syndrome 3, MIM# 616570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v3.11 EBP Zornitza Stark gene: EBP was added
gene: EBP was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: EBP was set to Other
Publications for gene: EBP were set to 21634086; 24704792
Phenotypes for gene: EBP were set to Chondrodysplasia punctata, X-linked dominant, MIM# 302960
Review for gene: EBP was set to GREEN
gene: EBP was marked as current diagnostic
Added comment: XLD. Contractures are a reported feature.
Sources: Expert list
Arthrogryposis v3.11 ADCY6 Zornitza Stark reviewed gene: ADCY6: Rating: GREEN; Mode of pathogenicity: None; Publications: 24319099, 26257172, 31846058; Phenotypes: Lethal congenital contracture syndrome 8, OMIM # 616287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Arthrogryposis v3.11 TOR1AIP1 Zornitza Stark reviewed gene: TOR1AIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24856141, 31299614, 30723199, 27342937, 32055997; Phenotypes: Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072, Progeroid appearance, Cataracts, Microcephaly, Deafness, Contractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Arthrogryposis v3.11 SCYL2 Zornitza Stark gene: SCYL2 was added
gene: SCYL2 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: SCYL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCYL2 were set to 31960134; 26203146
Phenotypes for gene: SCYL2 were set to Arthrogryposis multiplex congenita (AMC); Zain syndrome
Review for gene: SCYL2 was set to AMBER
Added comment: 2 unrelated consanguineous families reported with AMC. Constitutive mouse knockout of Scyl2 results in neonatal lethality and severe motor and sensory deficits.
Sources: Literature
Arthrogryposis v3.11 DMD Sarah Leigh Tag Skewed X-inactivation tag was added to gene: DMD.
Arthrogryposis v3.11 ATP1A2 Rebecca Foulger Classified gene: ATP1A2 as Amber List (moderate evidence)
Arthrogryposis v3.11 ATP1A2 Rebecca Foulger Added comment: Comment on list classification: Rated as Amber: 2 unrelated families in PMID:30690204 with arthrogryposis amongst their postnatal phenotypes. Further cases required for diagnostic rating.
Arthrogryposis v3.11 ATP1A2 Rebecca Foulger Gene: atp1a2 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.10 ATP1A2 Rebecca Foulger gene: ATP1A2 was added
gene: ATP1A2 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: ATP1A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP1A2 were set to 30690204
Phenotypes for gene: ATP1A2 were set to arthrogryposis, microcephaly, malformations of cortical development, dysmorphic features and severe respiratory insufficiency
Added comment: Added to panel based on PMID:30690204 (Monteiro et al., 2020) who describe 3 newborns from 2 unrelated families who died neontally, presenting in utero with fetal hydrops, seizures and polyhydramnios. At birth they had arthrogryposis, microcephaly, malformations of cortical development, dysmorphic features and severe respiratory insufficiency. Biallelic LOF variants in ATP1A2 were found upon WES.
Sources: Literature
Arthrogryposis v3.9 LMX1B Rebecca Foulger Publications for gene: LMX1B were set to 8403448; 19194568; 31369690; ISBN:9780199557509
Arthrogryposis v3.8 LMX1B Rebecca Foulger Publications for gene: LMX1B were set to 8403448
Arthrogryposis v3.7 LMX1B Rebecca Foulger Phenotypes for gene: LMX1B were changed from Nail-patella syndrome, 161200 to Nail-patella syndrome, 161200; Nail Patella syndrome; NPS
Arthrogryposis v3.6 LMX1B Rebecca Foulger Classified gene: LMX1B as Green List (high evidence)
Arthrogryposis v3.6 LMX1B Rebecca Foulger Added comment: Comment on list classification: Changed rating to Green with agreement from Zerin Hyder: overlap with Arthrogryposis phenotype and Nail patella syndrome.
Arthrogryposis v3.6 LMX1B Rebecca Foulger Gene: lmx1b has been classified as Green List (High Evidence).
Arthrogryposis v3.5 LMX1B Rebecca Foulger commented on gene: LMX1B: Dr Ataf Sabir notes (email, April 16 2020) that they had a 100K patient who presented with what looked like arthrogryposis, who had the Arthrogryposis panel with nil result, and on further investigation the patient had Nail Patella syndrome.
Arthrogryposis v3.5 LMX1B Ataf Sabir reviewed gene: LMX1B: Rating: ; Mode of pathogenicity: ; Publications: 19194568, 31369690, ISBN:9780199557509; Phenotypes: Nail Patella syndrome, NPS; Mode of inheritance:
Arthrogryposis v3.4 LMX1B Rebecca Foulger gene: LMX1B was added
gene: LMX1B was added to Arthrogryposis. Sources: Expert Review,Other
Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LMX1B were set to 8403448
Phenotypes for gene: LMX1B were set to Nail-patella syndrome, 161200
Added comment: Added LMX1B to the Arthrogryposis panel as requested by Dr Ataf Sabir.
Sources: Expert Review, Other
Arthrogryposis v3.3 MYH7 Zornitza Stark reviewed gene: MYH7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Arthrogryposis v3.3 Rebecca Foulger Panel version has been signed off
Arthrogryposis v3.0 Rebecca Foulger promoted panel to version 3.0
Arthrogryposis v2.121 Rebecca Foulger Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off
Arthrogryposis v2.120 L1CAM Rebecca Foulger Source NHS GMS was added to L1CAM.
Arthrogryposis v2.119 TOR1A Rebecca Foulger changed review comment from: Comment on list classification: Comment on list classification: Set rating as Green based on gene addition and review by Julie Vogt (West Midlands, Oxford and Wessex GLH).; to: Comment on list classification: Set rating as Green based on gene addition and review by Julie Vogt (West Midlands, Oxford and Wessex GLH).
Arthrogryposis v2.119 L1CAM Rebecca Foulger Classified gene: L1CAM as Red List (low evidence)
Arthrogryposis v2.119 L1CAM Rebecca Foulger Added comment: Comment on list classification: Set rating as Red based on gene addition and review by Julie Vogt (West Midlands, Oxford and Wessex GLH).
Arthrogryposis v2.119 L1CAM Rebecca Foulger Gene: l1cam has been classified as Red List (Low Evidence).
Arthrogryposis v2.118 L1CAM Rebecca Foulger commented on gene: L1CAM
Arthrogryposis v2.118 TOR1A Rebecca Foulger Classified gene: TOR1A as Green List (high evidence)
Arthrogryposis v2.118 TOR1A Rebecca Foulger Added comment: Comment on list classification: Comment on list classification: Set rating as Green based on gene addition and review by Julie Vogt (West Midlands, Oxford and Wessex GLH).
Arthrogryposis v2.118 TOR1A Rebecca Foulger Gene: tor1a has been classified as Green List (High Evidence).
Arthrogryposis v2.117 DYNC1H1 Rebecca Foulger Source Expert list was added to DYNC1H1.
Arthrogryposis v2.116 TOR1A Rebecca Foulger Phenotypes for gene: TOR1A were changed from arthrogryposis with developmental delay, strabismus and tremor; dystonia to arthrogryposis with developmental delay, strabismus and tremor; Dystonia-1, torsion, 128100
Arthrogryposis v2.115 TOR1A Rebecca Foulger Publications for gene: TOR1A were set to PMID: 30244176, 29053766, 28516161
Arthrogryposis v2.114 TOR1A Rebecca Foulger Source NHS GMS was added to TOR1A.
Arthrogryposis v2.113 TOR1A Rebecca Foulger commented on gene: TOR1A
Arthrogryposis v2.113 DYNC1H1 Rebecca Foulger Phenotypes for gene: DYNC1H1 were changed from arthrogryposis; Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 to arthrogryposis; neuronal migration abnormalities; Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600
Arthrogryposis v2.112 DYNC1H1 Rebecca Foulger Classified gene: DYNC1H1 as Green List (high evidence)
Arthrogryposis v2.112 DYNC1H1 Rebecca Foulger Added comment: Comment on list classification: Set rating as Green based on gene addition and review by Julie Vogt (West Midlands, Oxford and Wessex GLH).
Arthrogryposis v2.112 DYNC1H1 Rebecca Foulger Gene: dync1h1 has been classified as Green List (High Evidence).
Arthrogryposis v2.111 DYNC1H1 Rebecca Foulger Source Other was removed from DYNC1H1.
Source NHS GMS was added to DYNC1H1.
Arthrogryposis v2.110 DYNC1H1 Rebecca Foulger Phenotypes for gene: DYNC1H1 were changed from arthrogryposis; spinal muscular atrophy with lower extremity predominance to arthrogryposis; Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600
Arthrogryposis v2.109 DYNC1H1 Rebecca Foulger Publications for gene: DYNC1H1 were set to PMID: 25609763; 25512093; 28554554
Arthrogryposis v2.108 DYNC1H1 Rebecca Foulger commented on gene: DYNC1H1
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 classified VCP as red
Arthrogryposis VCP Alice Gardham commented on VCP
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 classified TMEM5 as red
Arthrogryposis TMEM5 Alice Gardham commented on TMEM5
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 commented on MYOT
Arthrogryposis MYOT Alice Gardham classified MYOT as red
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 marked RBCK1 as ready
Arthrogryposis RBCK1 Alice Gardham commented on RBCK1
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 marked SGCG as ready
Arthrogryposis SGCG Alice Gardham commented on SGCG
Arthrogryposis SIL1 Alice Gardham marked SIL1 as ready
Arthrogryposis SIL1 Alice Gardham commented on SIL1
Arthrogryposis SLC22A5 Alice Gardham marked SLC22A5 as ready
Arthrogryposis SLC22A5 Alice Gardham commented on SLC22A5
Arthrogryposis SLC25A4 Alice Gardham commented on SLC25A4
Arthrogryposis SLC25A4 Alice Gardham marked SLC25A4 as ready
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