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| Skeletal dysplasia v0.321 | TGFB2 | Zornitza Stark Marked gene: TGFB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.321 | TGFB2 | Zornitza Stark Gene: tgfb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.321 | TGFB2 | Zornitza Stark Phenotypes for gene: TGFB2 were changed from Loeys-Dietz syndrome 4 614816 to Loeys-Dietz syndrome 4, MIM# 614816; Camurati-Engelmann disease 2, MIM# 606631 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.320 | TGFB2 | Zornitza Stark Publications for gene: TGFB2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.319 | TGFB2 |
Zornitza Stark edited their review of gene: TGFB2: Added comment: Second skeletal phenotype associated with variants in this gene: Camurati-Engelmann disease-2 (CAEND2). This is an autosomal dominant disorder characterized by progressive diaphyseal dysplasia, associated with a waddling gait, muscle weakness, and severe leg pain. Bone striations are present in the spine, pelvis, and long tubular bones, with epiphyseal sclerosis. Coarse sclerotic trabeculae are observed in the short tubular bones. Skull involvement may be minimal. Four unrelated families reported in PMIDs 39014191 and 40204055. Variants were de novo in 3 of the families, and segregated with disease in the fourth.; Changed publications: 39014191, 40204055; Changed phenotypes: Loeys-Dietz syndrome 4, MIM# 614816, Camurati-Engelmann disease 2, MIM# 606631 |
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| Skeletal dysplasia v0.0 | TGFB2 |
Zornitza Stark gene: TGFB2 was added gene: TGFB2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TGFB2 were set to Loeys-Dietz syndrome 4 614816 |
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