Red cell disorders
Gene: TSR2
Single family with two male cousins reported, missense variant, no functional data.Created: 15 Sep 2020, 5:44 a.m. | Last Modified: 15 Sep 2020, 5:44 a.m.
Panel Version: 0.28
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946
Publications
Gene: tsr2 has been classified as Red List (Low Evidence).
Phenotypes for gene: TSR2 were changed from 300946 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis; ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 to Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946
Gene: tsr2 has been classified as Red List (Low Evidence).
Added phenotypes 300946 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis; ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 for gene: TSR2 Publications for gene TSR2 were updated from 24942156; 20301769 to 20301769; 24942156
gene: TSR2 was added gene: TSR2 was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Amber,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: TSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TSR2 were set to 24942156; 20301769 Phenotypes for gene: TSR2 were set to 300946 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis; ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946