PSAP

prosaposin
OMIM: 176801, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green PSAP in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 2.3 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions Tremors_Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Parkinson disease 24, autosomal dominant, susceptibility to, MIM# 619491
Green PSAP in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.140	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PSAP in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Parkinson disease, AD Combined SAP deficiency, MIM# 611721 Encephalopathy due to prosaposin deficiency, MONDO:0012719 Krabbe disease, atypical, MIM# 611722 MONDO:0012720 Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900 MONDO:0009590 Gaucher disease, atypical, MIM# 610539 MONDO:0012517
Green PSAP in Lysosomal Storage Disorder Level 2: Metabolic conditions Version 1.11 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 Combined SAP deficiency, MIM# 611721 Encephalopathy due to prosaposin deficiency, MONDO:0012719 Krabbe disease, atypical, MIM# 611722 MONDO:0012720 Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900 MONDO:0009590 Gaucher disease, atypical, MIM# 610539 MONDO:0012517
Green PSAP in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Combined SAP deficiency, MIM# 611721 Encephalopathy due to prosaposin deficiency, MONDO:0012719 Krabbe disease, atypical, MIM# 611722 MONDO:0012720 Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900 MONDO:0009590 Gaucher disease, atypical, MIM# 610539 MONDO:0012517
Green PSAP in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PSAP in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PSAP 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 Metachromatic leukodystrophy due to SAP-b deficiency, MIM#249900
Green PSAP in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.308 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900
Green PSAP in Leukodystrophy - adult onset Level 2: Neurology and neurodevelopmental disorders Version 0.140 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Metachromatic leukodystrophy due to SAP-b deficiency, 249900 Krabbe disease, atypical, 611722
Green PSAP 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 Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3)
Green PSAP in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Metachromatic leukodystrophy
Amber PSAP in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Genetic Health Queensland Phenotypes Combined SAP deficiency, MIM# 611721
Green PSAP in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3)
Red PSAP in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Parkinson disease Combined SAP deficiency, MIM# 611721 Encephalopathy due to prosaposin deficiency, MONDO:0012719 Krabbe disease, atypical, MIM# 611722 Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900 Gaucher disease, atypical, MIM# 610539
Green PSAP in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3)