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Fetal anomalies v0.4339 INTS8 Zornitza Stark Marked gene: INTS8 as ready
Fetal anomalies v0.4339 INTS8 Zornitza Stark Gene: ints8 has been classified as Red List (Low Evidence).
Fetal anomalies v0.4339 INTS8 Zornitza Stark Classified gene: INTS8 as Red List (low evidence)
Fetal anomalies v0.4339 INTS8 Zornitza Stark Gene: ints8 has been classified as Red List (Low Evidence).
Fetal anomalies v0.4273 INTS8 Daniel Flanagan gene: INTS8 was added
gene: INTS8 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: INTS8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTS8 were set to 28542170
Phenotypes for gene: INTS8 were set to Neurodevelopmental disorder with cerebellar hypoplasia and spasticity (MIM#618572)
Review for gene: INTS8 was set to RED
Added comment: Single family with three affected sibs with compound het INTS8 variants, Microcephaly, Cerebellar hypoplasia, Nodular heterotopia. Some functional evidence.
Sources: Expert list