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Microcephaly v1.69 GON7 Zornitza Stark Phenotypes for gene: GON7 were changed from Galloway-Mowat syndrome to Galloway-Mowat syndrome 9, MIM# 619603
Microcephaly v1.68 GON7 Zornitza Stark edited their review of gene: GON7: Changed phenotypes: Galloway-Mowat syndrome 9, MIM# 619603
Microcephaly v0.249 GON7 Zornitza Stark Tag founder tag was added to gene: GON7.
Microcephaly v0.247 GON7 Zornitza Stark Marked gene: GON7 as ready
Microcephaly v0.247 GON7 Zornitza Stark Gene: gon7 has been classified as Green List (High Evidence).
Microcephaly v0.247 GON7 Zornitza Stark Classified gene: GON7 as Green List (high evidence)
Microcephaly v0.247 GON7 Zornitza Stark Gene: gon7 has been classified as Green List (High Evidence).
Microcephaly v0.246 GON7 Zornitza Stark gene: GON7 was added
gene: GON7 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: GON7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GON7 were set to 31481669
Phenotypes for gene: GON7 were set to Galloway-Mowat syndrome
Review for gene: GON7 was set to GREEN
Added comment: 11 individuals from 5 families. Four of the families had the same homozygous variant, shared haplotype suggestive of founder effect. Clinical features included proteinuria, microcephaly, brain malformations and developmental delay. Supportive functional data.
Sources: Literature