Activity
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7 actions
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| Paediatric or syndromic cardiomyopathy v1.70 | TAZ | Arina Puzriakova commented on gene: TAZ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.70 | TAZ | Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.44 | TAZ | Ivone Leong Added comment: Comment on mode of inheritance: MOI corrected to an X-link MOI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.44 | TAZ | Ivone Leong Mode of inheritance for gene: TAZ was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.16 | TAZ | Ivone Leong reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.15 | TAZ | Ivone Leong Source NHS GMS was added to TAZ. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.1 | TAZ |
Ivone Leong gene: TAZ was added gene: TAZ was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,London South GLH,South West GLH Mode of inheritance for gene: TAZ was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: TAZ were set to 27604308 Phenotypes for gene: TAZ were set to Disorders of mitochondrial lipid metabolism; Dilated Cardiomyopathy, X-Linked; Neutropenia, muscle weakness, growth retardation; Non-compaction cardiomyopathy; Barth syndrome, 302060; Left Ventricular Noncompaction Cardiomyopathy; HCM, mixed; Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Barth syndrome; Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias) |
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