AGTPBP1

ATP/GTP binding protein 1
OMIM: 606830, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green AGTPBP1 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276
Green AGTPBP1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276
Green AGTPBP1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276
Green AGTPBP1 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.26 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276
Green AGTPBP1 in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.14 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276