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| Intellectual disability syndromic and non-syndromic v2.46 | ASTN1 | Zornitza Stark Phenotypes for gene: ASTN1 were changed from to Neurodevelopmental disorder (MONDO:0700092), ASTN1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.45 | ASTN1 | Zornitza Stark Publications for gene: ASTN1 were set to 29706646; 27431290; 26539891 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.44 | 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: 41544630, 29706646, 27431290, 26539891; Changed phenotypes: Neurodevelopmental disorder (MONDO:0700092), ASTN1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.0 | STN1 | Gene migrated from ENSG00000107960 to ENSG00000107960 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.6905 | STN1 | Zornitza Stark Marked gene: STN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.6905 | STN1 | Zornitza Stark Gene: stn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.6905 | STN1 | Zornitza Stark Phenotypes for gene: STN1 were changed from cerebral calcification; premature ageing; bone marrow failure; retinal telangiactasia; hepatic fibrosis to Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.3132 | STN1 | Sue White Classified gene: STN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.3132 | STN1 | Sue White Gene: stn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.3131 | STN1 |
Sue White gene: STN1 was added gene: STN1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STN1 were set to 32627942; 27432940 Phenotypes for gene: STN1 were set to cerebral calcification; premature ageing; bone marrow failure; retinal telangiactasia; hepatic fibrosis Penetrance for gene: STN1 were set to Complete Added comment: 3 unrelated patients reported with Coats-plus syndrome. Developmental delay noted in two. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.801 | ASTN1 | Zornitza Stark Marked gene: ASTN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.801 | ASTN1 | Zornitza Stark Gene: astn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.801 | ASTN1 | Zornitza Stark Classified gene: ASTN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.801 | ASTN1 | Zornitza Stark Gene: astn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.3 | ASTN1 |
Zornitza Stark gene: ASTN1 was added gene: ASTN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: ASTN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASTN1 were set to 29706646; 27431290; 26539891 Review for gene: ASTN1 was set to GREEN gene: ASTN1 was marked as current diagnostic Added comment: Three families reported as part of large cohorts albeit proposing multiple novel candidate genes with minimal detail and no functional validation. Sources: Expert list |
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