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BabyScreen+ newborn screening v0.2169 TUBB4B Zornitza Stark Marked gene: TUBB4B as ready
BabyScreen+ newborn screening v0.2169 TUBB4B Zornitza Stark Gene: tubb4b has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.2169 TUBB4B Zornitza Stark Classified gene: TUBB4B as Red List (low evidence)
BabyScreen+ newborn screening v0.2169 TUBB4B Zornitza Stark Gene: tubb4b has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.2148 TUBB4B Lilian Downie gene: TUBB4B was added
gene: TUBB4B was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: TUBB4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBB4B were set to PMID: 29198720, 35240325
Phenotypes for gene: TUBB4B were set to Leber congenital amaurosis with early-onset deafness MIM#617879
Review for gene: TUBB4B was set to RED
Added comment: The TUBB4B gene has been associated with autosomal dominant Leber congenital amaurosis with early-onset deafness
Not consistently hearing phenotype <5years therefore excluded
Sources: Expert list