AGTPBP1

ATP/GTP binding protein 1
OMIM: 606830, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green AGTPBP1 in Mendeliome Version 1.3795	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Neurodegeneration, childhood-onset, with cerebellar atrophy, MONDO:0032650
Green AGTPBP1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.600	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Neurodegeneration, childhood-onset, with cerebellar atrophy, MONDO:0032650
Green AGTPBP1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.507	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Neurodegeneration, childhood-onset, with cerebellar atrophy, MONDO:0032650
Green AGTPBP1 in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 1.160 Component of the following Super Panels: Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Neurodegeneration, childhood-onset, with cerebellar atrophy, MONDO:0032650
Green AGTPBP1 in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.45 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Neurodegeneration, childhood-onset, with cerebellar atrophy, MONDO:0032650