ATN1

atrophin 1
OMIM: 607462, ClinGen, DECIPHER

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
No list ATN1 in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 1.52 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Expert list Phenotypes Dentatorubral-pallidoluysian atrophy MIM#125370 Tags STR
Green ATN1 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 1.1 Component of the following Super Panels: Neuromuscular Superpanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM# 618494
Red ATN1 in Brain Calcification Level 2: Neurology and neurodevelopmental disorders Version 2.0 Component of the following Super Panels: Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Dentatorubral-pallidoluysian atrophy, MIM# 125370 Tags STR
Green ATN1 in Mendeliome Version 1.3802	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM#618494
Green ATN1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.309 Component of the following Super Panels: Progressive Neurological Conditions	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Literature Phenotypes Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM#618494
Green ATN1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.601	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green ATN1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM#618494
Red ATN1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Dentatorubral-pallidoluysian atrophy 1
Green ATN1 in Fetal anomalies Version 1.482	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Literature Phenotypes Congenital hypotonia, epilepsy, developmental delay, and digital anomalies - MIM#618494
Red ATN1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.141	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Dentatorubral-pallidoluysian atrophy 1
Green ATN1_DRPLA_CAG STR in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 1.52 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Dentatorubral-pallidoluysian atrophy MIM#125370 Tags STR
Green ATN1_DRPLA_CAG STR in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.309 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Dentatorubral-pallidoluysian atrophy MIM#125370
Green ATN1_DRPLA_CAG STR in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 1.162 Component of the following Super Panels: Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert List Phenotypes Dentatorubral-pallidoluysian atrophy MIM#125370
Green ATN1_DRPLA_CAG STR in Repeat Disorders Version 0.269	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Dentatorubral-pallidoluysian atrophy MIM#125370 Tags adult-onset paediatric-onset