AGTPBP1

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

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green AGTPBP1 in Mendeliome Version 2.336	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 1.2	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 2.53	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 2.7 Component of the following Super Panels: Movement Disorders Superpanel Neurodegenerative disease - adult onset 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 Level 2: Neurology and neurodevelopmental disorders Version 2.10 Component of the following Super Panels: 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
Red AGTPBP1 in Infertility and Recurrent Pregnancy Loss Version 2.35	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS NHS GMS Phenotypes Infertility disorder, MONDO:0005047, AGTPBP1-related