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Severe Paediatric Disorders v1.59 MYL1 Arina Puzriakova Phenotypes for gene: MYL1 were changed from Myopathy, congenital, with fast-twitch (type II) fiber atrophy, 618414 to Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414; Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109
Severe Paediatric Disorders v0.17 ITCH Louise Daugherty Mode of inheritance for gene ITCH was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 ITCH Louise Daugherty reviewed gene: ITCH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 ITCH Louise Daugherty Publications for gene ITCH were updated from to 30847515
Severe Paediatric Disorders v0.10 RFX6 Louise Daugherty Added phenotypes Mitchell-Riley syndrome, 615710 for gene: RFX6
Severe Paediatric Disorders v0.10 MYL1 Louise Daugherty Added phenotypes Myopathy, congenital, with fast-twitch (type II) fiber atrophy, 618414 for gene: MYL1
Severe Paediatric Disorders v0.10 ITCH Louise Daugherty Added phenotypes Autoimmune disease, multisystem, with facial dysmorphism, 613385 for gene: ITCH
Severe Paediatric Disorders v0.9 RFX6 Louise Daugherty Added phenotypes Mitchell-Riley syndrome, 615710 for gene: RFX6
Severe Paediatric Disorders v0.9 MYL1 Louise Daugherty Added phenotypes Myopathy, congenital, with fast-twitch (type II) fiber atrophy, 618414 for gene: MYL1
Severe Paediatric Disorders v0.9 ITCH Louise Daugherty Added phenotypes Autoimmune disease, multisystem, with facial dysmorphism, 613385 for gene: ITCH
Severe Paediatric Disorders v0.9 RFX6 Louise Daugherty Added phenotypes Mitchell-Riley syndrome, 615710 for gene: RFX6
Severe Paediatric Disorders v0.9 MYL1 Louise Daugherty Added phenotypes Myopathy, congenital, with fast-twitch (type II) fiber atrophy, 618414 for gene: MYL1
Severe Paediatric Disorders v0.9 ITCH Louise Daugherty Added phenotypes Autoimmune disease, multisystem, with facial dysmorphism, 613385 for gene: ITCH
Severe Paediatric Disorders v0.8 RFX6 Louise Daugherty Added phenotypes Mitchell-Riley syndrome, 615710 for gene: RFX6
Severe Paediatric Disorders v0.8 MYL1 Louise Daugherty Added phenotypes Myopathy, congenital, with fast-twitch (type II) fiber atrophy, 618414 for gene: MYL1
Severe Paediatric Disorders v0.8 ITCH Louise Daugherty Added phenotypes Autoimmune disease, multisystem, with facial dysmorphism, 613385 for gene: ITCH
Severe Paediatric Disorders v0.7 ITCH Louise Daugherty Source Next Generation Children Project was added to ITCH.
Severe Paediatric Disorders v0.5 ITCH Louise Daugherty Source Expert Review Green was added to ITCH.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 ITCH Louise Daugherty gene: ITCH was added
gene: ITCH was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ITCH was set to