Activity

Filter

Cancel
Date Panel Item Activity
30 actions
Congenital myopathy v4.27 ZC4H2 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Anna Sarkozy (Great Ormond Street Hospital) and others, variants in ZC4H2 cause a clinical phenotype that includes congenital arthrogryposis, joint contractures and muscle weakness similar to that has been seen in structural myopathies. As there is sufficient number of cases, this gene can be promoted to green at the next major review.; to: Comment on list classification: As reviewed by Anna Sarkozy (Great Ormond Street Hospital) and others, variants in ZC4H2 cause a clinical phenotype that includes congenital arthrogryposis, joint contractures and muscle weakness similar to what has been seen in structural myopathies. As there is sufficient number of cases, this gene can be promoted to green at the next major review.
Congenital myopathy v4.27 ZC4H2 Achchuthan Shanmugasundram Tag Q2_23_NHS_review tag was added to gene: ZC4H2.
Congenital myopathy v4.27 ZC4H2 Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: ZC4H2.
Congenital myopathy v4.27 ZC4H2 Achchuthan Shanmugasundram Classified gene: ZC4H2 as Amber List (moderate evidence)
Congenital myopathy v4.27 ZC4H2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Anna Sarkozy (Great Ormond Street Hospital) and others, variants in ZC4H2 cause a clinical phenotype that includes congenital arthrogryposis, joint contractures and muscle weakness similar to that has been seen in structural myopathies. As there is sufficient number of cases, this gene can be promoted to green at the next major review.
Congenital myopathy v4.27 ZC4H2 Achchuthan Shanmugasundram Gene: zc4h2 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v4.26 ZC4H2 Achchuthan Shanmugasundram reviewed gene: ZC4H2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital myopathy v3.124 ZC4H2 Anna Sarkozy reviewed gene: ZC4H2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital myopathy v3.121 ZC4H2 Arina Puzriakova Phenotypes for gene: ZC4H2 were changed from Wieacker-Wolff syndrome, 314580 to Wieacker-Wolff syndrome, OMIM:314580; Wieacker-Wolff syndrome, female-restricted, OMIM:301041
Congenital myopathy v1.198 ZC4H2 Louise Daugherty Classified gene: ZC4H2 as Red List (low evidence)
Congenital myopathy v1.198 ZC4H2 Louise Daugherty Added comment: Comment on list classification: Changed from Green to Red. Updated rating from Anna Sarkozy as a result of GLH Test Group prior to sign off
Congenital myopathy v1.198 ZC4H2 Louise Daugherty Gene: zc4h2 has been classified as Red List (Low Evidence).
Congenital myopathy v1.183 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.
Congenital myopathy v1.183 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)
Congenital myopathy v1.182 ZC4H2 Louise Daugherty edited their review of gene: ZC4H2: Added comment: After review with Genomics England clinical team this gene was deemed valid to include on the congenital myopathy panel, as affected individuals clearly have muscle weakness. The majority of boys with it have a level of severity that it is onset in utero, leading to contractures. Arthrogryposis and congenital myopathy are a clinical continuum and as long as the neuromuscular group do not disagree, so should on both panels.; Changed rating: GREEN
Congenital myopathy v1.173 ZC4H2 Louise Daugherty Classified gene: ZC4H2 as Green List (high evidence)
Congenital myopathy v1.173 ZC4H2 Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Green based on recommendation from Guy's Hospital. Sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene as Green.
Congenital myopathy v1.173 ZC4H2 Louise Daugherty Gene: zc4h2 has been classified as Green List (High Evidence).
Congenital myopathy v1.172 ZC4H2 Louise Daugherty Publications for gene: ZC4H2 were set to 23623388, 26056227
Congenital myopathy v1.124 ZC4H2 Louise Daugherty Phenotypes for gene: ZC4H2 were changed from CAP myopathy 2, 609285; Nemaline myopathy 4, autosomal dominant 609285; Arthrogryposis multiplex congenita, distal, type1, 108120; Arthrogryposis, distal, type 2B, 601680 to Wieacker-Wolff syndrome, 314580
Congenital myopathy v1.123 ZC4H2 Louise Daugherty Publications for gene: ZC4H2 were set to 12592607; 11738357; 17434307
Congenital myopathy v1.120 ZC4H2 Rachael Mein edited their review of gene: ZC4H2: Changed publications: 23623388, 26056227; Changed phenotypes: Wieacker-Wolff syndrome 314580
Congenital myopathy v1.80 ZC4H2 Louise Daugherty Phenotypes for gene: ZC4H2 were changed from CAP myopathy 2, 609285; Nemaline myopathy 4, autosomal dominant 609285; Arthrogryposis multiplex congenita, distal, type1 108120; Arthrogryposis, distal, type 2B 601680 to CAP myopathy 2, 609285; Nemaline myopathy 4, autosomal dominant 609285; Arthrogryposis multiplex congenita, distal, type1, 108120; Arthrogryposis, distal, type 2B, 601680
Congenital myopathy v1.79 ZC4H2 Louise Daugherty Phenotypes for gene: ZC4H2 were changed from to CAP myopathy 2, 609285; Nemaline myopathy 4, autosomal dominant 609285; Arthrogryposis multiplex congenita, distal, type1 108120; Arthrogryposis, distal, type 2B 601680
Congenital myopathy v1.78 ZC4H2 Louise Daugherty Publications for gene: ZC4H2 were set to
Congenital myopathy v1.77 ZC4H2 Louise Daugherty Mode of inheritance for gene: ZC4H2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital myopathy v1.76 ZC4H2 Louise Daugherty reviewed gene: ZC4H2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.75 ZC4H2 Rachael Mein reviewed gene: ZC4H2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12592607, 11738357, 17434307; Phenotypes: CAP myopathy 2, 609285, Nemaline myopathy 4, autosomal dominant 609285, Arthrogryposis multiplex congenita, distal, type1 108120: Arthrogryposis, distal, type 2B 601680; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Congenital myopathy v1.74 ZC4H2 Louise Daugherty Source NHS GMS was added to ZC4H2.
Congenital myopathy v1.73 ZC4H2 Louise Daugherty gene: ZC4H2 was added
gene: ZC4H2 was added to Congenital myopathy. Sources: London South GLH
Mode of inheritance for gene: ZC4H2 was set to