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Intellectual disability syndromic and non-syndromic v0.2101 PHACTR1 Zornitza Stark Marked gene: PHACTR1 as ready
Intellectual disability syndromic and non-syndromic v0.2101 PHACTR1 Zornitza Stark Gene: phactr1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2101 PHACTR1 Zornitza Stark Phenotypes for gene: PHACTR1 were changed from Seizures:Epileptic encephalopathy, early infantile, 70, MIM# 618298; PHACTR1-associated neurodevelopment disorder to Epileptic encephalopathy, early infantile, 70, MIM# 618298; PHACTR1-associated neurodevelopment disorder
Intellectual disability syndromic and non-syndromic v0.2100 PHACTR1 Zornitza Stark Classified gene: PHACTR1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2100 PHACTR1 Zornitza Stark Gene: phactr1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2099 PHACTR1 Zornitza Stark gene: PHACTR1 was added
gene: PHACTR1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: PHACTR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHACTR1 were set to 30256902; 28135719; 23033978; 27457812
Phenotypes for gene: PHACTR1 were set to Seizures:Epileptic encephalopathy, early infantile, 70, MIM# 618298; PHACTR1-associated neurodevelopment disorder
Penetrance for gene: PHACTR1 were set to Incomplete
Mode of pathogenicity for gene: PHACTR1 was set to Other
Review for gene: PHACTR1 was set to GREEN
gene: PHACTR1 was marked as current diagnostic
Added comment: 6 unrelated individuals reported altogether with variants in this gene. Several as part of large cohorts, so limited variant and patient characterisation. One variant reported by de Ligt et al is present in the population (4 individuals) suggesting reduced penetrance. However, functional data (including mouse model) for this and other variants exerting a dominant negative effect.
Sources: Expert list