SCARB2

scavenger receptor class B member 2
OMIM: 602257, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green SCARB2 in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Progressive Myoclonus Epilepsy, MONDO:0020074 Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900
Green SCARB2 in Proteinuria Level 2: Renal and urinary tract disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Progressive Myoclonus Epilepsy, MONDO:0020074 Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900
Green SCARB2 in Lysosomal Storage Disorder Level 2: Metabolic conditions Version 2.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes action myoclonus-renal failure syndrome MONDO:0009699 Other disorders of complex molecule degradation
Green SCARB2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Progressive Myoclonus Epilepsy, MONDO:0020074 Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900
Green SCARB2 in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SCARB2 in Progressive Myoclonic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Epilepsy, progressive myoclonic 4, with or without renal failure 254900
Green SCARB2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3)
Green SCARB2 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epilepsy, progressive myoclonic 4, with or without renal failure, MIM#254900
Red SCARB2 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Epilepsy, progressive myoclonic 4, with or without renal failure MIM#254900