THG1L

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber THG1L in Mendeliome Version 1.3802	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 28, MIM# 618800 Tags founder
Amber THG1L in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.309 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert list Expert Review Green Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 28 - 618800 Epilepsy Intellectual disability Tags founder
Amber THG1L in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.510	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 28 - 618800 Epilepsy Intellectual Disability Tags founder
Amber THG1L in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 1.162 Component of the following Super Panels: Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia, autosomal recessive 28, MIM# 618800 Tags founder

4 panels