GPT2:Ensemblv90

glutamic--pyruvic transaminase 2
OMIM: 138210, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green GPT2 in Mendeliome Version 1.3802	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281
Green GPT2 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.376	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281
Green GPT2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.309 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281
Green GPT2 in Mitochondrial disease Level 2: Metabolic disorders Version 0.1299 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281
Green GPT2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281
Green GPT2 in Hereditary Spastic Paraplegia Level 2: Neurology and neurodevelopmental disorders Version 1.130 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281
Green GPT2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.111	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mental retardation, autosomal recessive 49, 616281 (3)
Red GPT2 in Fetal anomalies Version 1.482	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder with microcephaly and spastic paraplegia MIM#616281
Green GPT2 in Prepair 1000+ Level 2: Screening Version 2.15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281
Green GPT2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281
Green GPT2 in Hereditary Spastic Paraplegia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281
Green GPT2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Mental retardation, autosomal recessive 49, 616281 (3)
Green GPT2 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281