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Craniosynostosis v0.21 CHST3 Tiong Tan edited their review of gene: CHST3: Changed rating: RED
Craniosynostosis v0.21 CHST3 Tiong Tan Classified gene: CHST3 as Red List (low evidence)
Craniosynostosis v0.21 CHST3 Tiong Tan Gene: chst3 has been classified as Red List (Low Evidence).
Craniosynostosis v0.20 CHST3 Tiong Tan Marked gene: CHST3 as ready
Craniosynostosis v0.20 CHST3 Tiong Tan Gene: chst3 has been classified as Red List (Low Evidence).
Craniosynostosis v0.20 CHST3 Tiong Tan gene: CHST3 was added
gene: CHST3 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHST3 were set to 24300290
Phenotypes for gene: CHST3 were set to 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
Penetrance for gene: CHST3 were set to Complete
Review for gene: CHST3 was set to AMBER
Added comment: Single case report of craniosynostosis in single individual with SEDCJD
Sources: Literature