PPT1

palmitoyl-protein thioesterase 1
OMIM: 600722, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green PPT1 in Mendeliome Version 1.2656	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 1, MIM# 256730 MONDO:0009744
Green PPT1 in Lysosomal Storage Disorder Level 2: Metabolic conditions Version 1.17 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 1, MIM# 256730 MONDO:0009744
Green PPT1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.157 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 1, MIM# 256730 MONDO:0009744
Green PPT1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.581	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PPT1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.174	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Ceroid lipofuscinosis, neuronal, 1 MIM#256730
Amber PPT1 in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.321 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Ceroid lipofuscinosis, neuronal, 1 256730
Green PPT1 in Progressive Myoclonic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 0.21	review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 1 256730
Green PPT1 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.227 Component of the following Super Panels: Retinal Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Ceroid lipofuscinosis, neuronal, 1, MIM#256730
Green PPT1 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 Ceroid lipofuscinosis, neuronal, 1, 256730 (3)
Green PPT1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Neuronal ceroid lipofuscinosis
Red PPT1 in Fetal anomalies Version 1.370	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Ceroid lipofuscinosis, neuronal, 1, MIM# 256730 MONDO:0009744
Green PPT1 in Prepair 1000+ Level 2: Screening Version 2.13	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ceroid lipofuscinosis, neuronal, 1, MIM# 256730
Red PPT1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.121	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Ceroid lipofuscinosis, neuronal, 1, MIM# 256730
Green PPT1 in Prepair 500+ Level 2: Screening Version 2.0	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ceroid lipofuscinosis, neuronal, 1, MIM# 256730