Genomics England

PSAP

prosaposin

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ATYPICAL KRABBE DISEASE 611722
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood Signed-off version 9.56	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined SAP deficiency 611721
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ATYPICAL KRABBE DISEASE
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Metachromatic leukodystrophy due to SAP-b deficiency, 249900Gaucher disease, atypical, 610539Combined SAP deficiency, 611721Krabbe disease, atypical, 611722, ATYPICAL KRABBE DISEASE
Green in Krabbe disease - Saposin A deficiency R-numbers: R281 Signed-off version 1.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined SAP deficiency, OMIM:611721, Krabbe disease, atypical, OMIM:611722, PSAP-related sphingolipidosis, MONDO:0100517
Green in Leukodystrophy, adult onset R-numbers: R62 Signed-off version 7.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Krabbe disease, atypical, 611722, Metachromatic leukodystrophy due to SAP-b deficiency, 249900
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Atypical Gaucher disease, Metachromatic leukodystrophy due to SAP-b deficiency, 249900, Combined SAP deficiency, Combined SAP deficiency, 611721, Prosaposin deficiency (Sphingolipidoses), Atypical Krabbe disease, Gaucher disease, atypical, 610539, Krabbe disease, atypical, 611722
Green in Lysosomal storage disorder R-numbers: R276 Signed-off version 3.10	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Krabbe disease, atypical OMIM:611722, Krabbe disease, atypical, due to saposin A deficiency MONDO:0012720, Combined SAP deficiency OMIM:611721, encephalopathy due to prosaposin deficiency MONDO:0012719, Gaucher disease, atypical OMIM:610539, atypical Gaucher disease due to saposin C deficiency MONDO:0012517, Metachromatic leukodystrophy due to SAP-b deficiency OMIM:249900, metachromatic leukodystrophy due to saposin b deficiency MONDO:0009590
Green in Neurodegenerative disorders, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes {Parkinson disease 24, autosomal dominant, susceptibility to}, OMIM:619491
Green in White matter disorders and cerebral calcification - childhood onset Component of the following Super Panels: - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 8.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined SAP deficiency