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Mendeliome v0.242 PUS7 Zornitza Stark Marked gene: PUS7 as ready
Mendeliome v0.242 PUS7 Zornitza Stark Gene: pus7 has been classified as Green List (High Evidence).
Mendeliome v0.242 PUS7 Zornitza Stark Classified gene: PUS7 as Green List (high evidence)
Mendeliome v0.242 PUS7 Zornitza Stark Gene: pus7 has been classified as Green List (High Evidence).
Mendeliome v0.241 PUS7 Zornitza Stark gene: PUS7 was added
gene: PUS7 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS7 were set to 30526862; 30778726; 31583274
Phenotypes for gene: PUS7 were set to Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature; OMIM #618342
Review for gene: PUS7 was set to GREEN
Added comment: 11 patients from 6 families with ID, speech delay, short stature, microcephaly, and aggressive behavior, with homozygous PUS7 mutations, which segregated with disease.
Sources: Literature