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Mendeliome v1.1078 TBC1D31 Zornitza Stark Marked gene: TBC1D31 as ready
Mendeliome v1.1078 TBC1D31 Zornitza Stark Gene: tbc1d31 has been classified as Red List (Low Evidence).
Mendeliome v1.1078 TBC1D31 Zornitza Stark Classified gene: TBC1D31 as Red List (low evidence)
Mendeliome v1.1078 TBC1D31 Zornitza Stark Gene: tbc1d31 has been classified as Red List (Low Evidence).
Mendeliome v1.1071 TBC1D31 Lilian Downie gene: TBC1D31 was added
gene: TBC1D31 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TBC1D31 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D31 were set to PMID: 37468454
Phenotypes for gene: TBC1D31 were set to congenital anomaly of kidney and urinary tract MONDO:0019719
Review for gene: TBC1D31 was set to RED
Added comment: Single paper with homozygous mutations in 3 sibs with CAKUT from consanguineous family
Sources: Literature