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| Growth failure in early childhood v3.30 | FGFR3 | Arina Puzriakova Phenotypes for gene: FGFR3 were changed from Hypochondroplasia, 146000 to Hypochondroplasia, OMIM:146000; Crouzon syndrome with acanthosis nigricans, OMIM:612247; Thanatophoric dysplasia, type I, OMIM:187600; Thanatophoric dysplasia, type II, OMIM:187601 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v3.12 | ACAN | Arina Puzriakova Phenotypes for gene: ACAN were changed from Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (AD), 165800; Spondyloepimetaphyseal dysplasia, aggrecan type (AR), 612813; short stature, accelerated bone maturation, Spondyloepiphyseal dysplasia, early onset osteoarthritis; ?Spondyloepiphyseal dysplasia, Kimberley type (AD), 608361 to Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM:165800 (AD); ?Spondyloepiphyseal dysplasia, Kimberley type, OMIM:608361 (AD); Spondyloepimetaphyseal dysplasia, aggrecan type, OMIM:612813 (AR) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v0.21 | ACAN | Rebecca Foulger reviewed gene: ACAN: Rating: AMBER; Mode of pathogenicity: ; Publications: 27870580; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v0.20 | ACAN |
Rebecca Foulger Source Expert Review Green was added to ACAN. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Growth failure in early childhood v0.18 | ACAN | Ivone Leong Publications for gene: ACAN were set to 24762113 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v0.17 | ACAN | Ivone Leong reviewed gene: ACAN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v0.16 | ACAN |
Ivone Leong Source Expert list was added to ACAN. Mode of inheritance for gene ACAN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (AD), 165800; Spondyloepimetaphyseal dysplasia, aggrecan type (AR), 612813; ?Spondyloepiphyseal dysplasia, Kimberley type (AD), 608361 for gene: ACAN |
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| Growth failure in early childhood v0.1 | ACAN |
Ellen McDonagh gene: ACAN was added gene: ACAN was added to Growth failure in early childhood. Sources: Expert Review Red Mode of inheritance for gene: ACAN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACAN were set to 24762113 Phenotypes for gene: ACAN were set to short stature, accelerated bone maturation, Spondyloepiphyseal dysplasia, early onset osteoarthritis |
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