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Bleeding and Platelet Disorders v1.57 CHST14 Zornitza Stark Mode of inheritance for gene: CHST14 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v1.56 CHST14 Zornitza Stark edited their review of gene: CHST14: Changed phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.51 CHST14 Zornitza Stark Marked gene: CHST14 as ready
Bleeding and Platelet Disorders v0.51 CHST14 Zornitza Stark Gene: chst14 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.51 CHST14 Zornitza Stark Classified gene: CHST14 as Green List (high evidence)
Bleeding and Platelet Disorders v0.51 CHST14 Zornitza Stark Gene: chst14 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.50 CHST14 Zornitza Stark gene: CHST14 was added
gene: CHST14 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: CHST14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776
Review for gene: CHST14 was set to GREEN
Added comment: Large haematomas are a feature.
Sources: Expert list