AMPD2

adenosine monophosphate deaminase 2
OMIM: 102771, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green AMPD2 in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 1.65	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 9, MIM# 615809
Green AMPD2 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Pontocerebellar hypoplasia, type 9, MIM# 615809
Green AMPD2 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 9, MIM#615809
Green AMPD2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 9, MIM#615809
Green AMPD2 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green AMPD2 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 Genetic Health Queensland Phenotypes Pontocerebellar hypoplasia, type 9, MIM#615809
Red AMPD2 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 Red Other Expert Review Red Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 9, 615809
Red AMPD2 in Hereditary Spastic Paraplegia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.76 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Spastic paraplegia 63 MIM#615686
Red AMPD2 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 Red Royal Melbourne Hospital Phenotypes Global developmental delay, spasticity, seizures, dysmorphic facies, axonal neuropathy, agenesis of the corpus callosum and cerebellar hypoplasia on MRI
Green AMPD2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia, type 9, 615809 (3)
Green AMPD2 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Pontocerebellar hypoplasia, type 9, MIM#615809
Green AMPD2 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia, type 9, 615809 (3)
Green AMPD2 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia, type 9, 615809 (3)
Green AMPD2 in Nucleotide metabolism disorders Level 2: Metabolic disorders Version 0.1 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes pontocerebellar hypoplasia type 9 MONDO:0014351 Disorders of purine metabolism