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Mendeliome v0.2301 SLC9A1 Zornitza Stark Marked gene: SLC9A1 as ready
Mendeliome v0.2301 SLC9A1 Zornitza Stark Gene: slc9a1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2301 SLC9A1 Zornitza Stark Classified gene: SLC9A1 as Amber List (moderate evidence)
Mendeliome v0.2301 SLC9A1 Zornitza Stark Gene: slc9a1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2300 SLC9A1 Zornitza Stark gene: SLC9A1 was added
gene: SLC9A1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SLC9A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC9A1 were set to 25205112; 30018422; 25760855
Phenotypes for gene: SLC9A1 were set to Lichtenstein-Knorr syndrome, MIM# 616291
Review for gene: SLC9A1 was set to AMBER
Added comment: Two families with bi-allelic variants in this gene reported and combination of deafness and ataxia.
Sources: Expert list