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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 |