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Mendeliome v2.280 ASTN1 Zornitza Stark Phenotypes for gene: ASTN1 were changed from Cerebral malformation, MONDO:0016054, ASTN1-related to Neurodevelopmental disorder (MONDO:0700092), ASTN1-related
Mendeliome v2.279 ASTN1 Zornitza Stark Publications for gene: ASTN1 were set to 29706646; 27431290; 26539891
Mendeliome v2.278 ASTN1 Zornitza Stark edited their review of gene: ASTN1: Added comment: PMID 41544630 reports 18 individuals with NDDs from 12 unrelated families with bi-allelic, ultra-rare, predicted damaging variants in ASTN1. Clinical features ranged from mild to profound developmental delay or intellectual disability +/- autism, ADHD, and epilepsy. Other recurrent abnormalities included dysmorphic facial features, hypotonia, spasticity, and ataxia. The neuroradiographic phenotype ranged from normal to mild (a thin corpus callosum and cerebellar dysgenesis), to severe (polymicrogyria and lissencephaly).; Changed publications: 29706646, 27431290, 26539891, 41544630; Changed phenotypes: Neurodevelopmental disorder (MONDO:0700092), ASTN1-relatedrd
Mendeliome v2.1 STN1 Sangavi Sivagnanasundram reviewed gene: STN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27432940, 34110109, 32627942; Phenotypes: cerebroretinal microangiopathy with calcifications and cysts 2 MONDO:0015026; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.0 STN1 Gene migrated from ENSG00000107960 to ENSG00000107960 (gene set migration)
Mendeliome v1.1196 ASTN1 Zornitza Stark Phenotypes for gene: ASTN1 were changed from Polymicrogyria; hypoplastic corpus callosum to Cerebral malformation, MONDO:0016054, ASTN1-related
Mendeliome v1.1195 ASTN1 Zornitza Stark edited their review of gene: ASTN1: Changed phenotypes: Cerebral malformation, MONDO:0016054, ASTN1-related
Mendeliome v0.14074 ASTN1 Elena Savva Marked gene: ASTN1 as ready
Mendeliome v0.14074 ASTN1 Elena Savva Gene: astn1 has been classified as Green List (High Evidence).
Mendeliome v0.14073 ASTN1 Elena Savva Phenotypes for gene: ASTN1 were changed from to Polymicrogyria; hypoplastic corpus callosum
Mendeliome v0.14072 ASTN1 Elena Savva Publications for gene: ASTN1 were set to 29706646; 27431290; 26539891
Mendeliome v0.14072 ASTN1 Elena Savva Publications for gene: ASTN1 were set to
Mendeliome v0.14072 ASTN1 Elena Savva Mode of inheritance for gene: ASTN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5246 STN1 Zornitza Stark Publications for gene: STN1 were set to 27432940
Mendeliome v0.5245 STN1 Zornitza Stark Classified gene: STN1 as Green List (high evidence)
Mendeliome v0.5245 STN1 Zornitza Stark Gene: stn1 has been classified as Green List (High Evidence).
Mendeliome v0.5244 STN1 Zornitza Stark edited their review of gene: STN1: Added comment: Third unrelated family reported, promote to Green.; Changed rating: GREEN; Changed publications: 27432940, 32627942
Mendeliome v0.794 STN1 Zornitza Stark Marked gene: STN1 as ready
Mendeliome v0.794 STN1 Zornitza Stark Gene: stn1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.794 STN1 Zornitza Stark Classified gene: STN1 as Amber List (moderate evidence)
Mendeliome v0.794 STN1 Zornitza Stark Gene: stn1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.793 STN1 Zornitza Stark gene: STN1 was added
gene: STN1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STN1 were set to 27432940
Phenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341
Review for gene: STN1 was set to AMBER
Added comment: Two unrelated individuals reported.
Sources: Expert list
Mendeliome v0.0 ASTN1 Zornitza Stark gene: ASTN1 was added
gene: ASTN1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ASTN1 was set to Unknown