SLC44A1

solute carrier family 44 member 1
OMIM: 606105, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green SLC44A1 in Mendeliome Version 1.3098	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, MIM# 618868
Green SLC44A1 in Optic Atrophy Level 2: Ophthalmological disorders Version 1.49 Component of the following Super Panels: Retinal Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Childhood onset degeneration progressive ataxia tremor cognitive decline dysphagia optic atrophy dysarthria
Green SLC44A1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.585	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Childhood-onset neurodegeneration progressive ataxia tremor cognitive decline dysphagia optic atrophy dysarthria
Red SLC44A1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.294	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes progressive ataxia tremor cognitive decline dysphagia optic atrophy dysarthria
Green SLC44A1 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.51 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Childhood-onset neurodegeneration progressive ataxia tremor cognitive decline dysphagia optic atrophy dysarthria