FH

Panel	Reviews	Mode of inheritance	Details
Filter panels 19 panels
Green FH in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Fumarase deficiency MIM#606812
Red FH in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Fumarase deficiency, MIM# 606812
Green FH in Mendeliome Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes hereditary leiomyomatosis and renal cell cancer MONDO:0007888 fumaric aciduria MONDO:0011730
Amber FH in Cancer Predisposition_Paediatric Level 2: Cancer Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Leiomyomatosis and renal cell cancer, MIM# 150800
Green FH in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Fumarase deficiency, MIM#606812
Green FH in Mitochondrial disease Level 2: Metabolic disorders Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes hereditary leiomyomatosis and renal cell cancer MONDO:0007888 fumaric aciduria MONDO:0011730
Green FH in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green FH in Additional findings_Adult Level 2: Screening Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888
Green FH in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Fumarase deficiency (MIM# 606812)
Green FH 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 Fumarase deficiency, 606812 (3)
Green FH in Additional findings_Paediatric Level 2: Screening Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene BabySeq Category A gene Phenotypes Fumurase deficiency MIM# 606812
Green FH in Liver Failure_Paediatric Level 2: Gastroenterological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Fumarase deficiency, MIM#606812
Green FH in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Fumarase deficiency, MIM# 606812
Green FH in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fumarase deficiency, MIM# 606812
Green FH in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene BabySeq Category A gene Phenotypes Fumurase deficiency MIM# 606812 Tags treatable metabolic
Green FH in Facial papules Level 2: Dermatological disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Hereditary leiomyomatosis and renal cell cancer MONDO:0007888
Green FH in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fumarase deficiency, MIM# 606812
Green FH in Paraganglioma_phaeochromocytoma Level 2: Cancer Predisposition Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert list Phenotypes Paraganglioma, MONDO:0000448 Pheochromocytoma, MONDO:0008233 Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888 Leiomyomatosis and renal cell cancer, MIM#150800
Green FH in Kidney Cancer Level 2: Cancer Predisposition Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert list Phenotypes Renal carcinoma, MONDO:0005206 Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888 Leiomyomatosis and renal cell cancer, MIM#150800

FH

19 panels

Green FH in Cerebral Palsy

Sources

Phenotypes

Red FH in Hydrops fetalis

Sources

Phenotypes

Green FH in Mendeliome

Sources

Phenotypes

Amber FH in Cancer Predisposition_Paediatric

Sources

Phenotypes

Green FH in Genetic Epilepsy

Sources

Phenotypes

Green FH in Mitochondrial disease

Sources

Phenotypes

Green FH in Callosome

Sources

Green FH in Additional findings_Adult

Sources

Phenotypes

Green FH in Intellectual disability syndromic and non-syndromic

Sources

Phenotypes

Green FH in Mackenzie's Mission_Reproductive Carrier Screening

Sources

Phenotypes

Green FH in Additional findings_Paediatric

Sources

Phenotypes

Green FH in Liver Failure_Paediatric

Sources

Phenotypes

Green FH in Fetal anomalies

Sources

Phenotypes

Green FH in Prepair 1000+

Sources

Phenotypes

Green FH in Genomic newborn screening: BabyScreen+

Sources

Phenotypes

Tags

Green FH in Facial papules

Sources

Phenotypes

Green FH in Prepair 500+

Sources

Phenotypes

Green FH in Paraganglioma_phaeochromocytoma

Sources

Phenotypes

Green FH in Kidney Cancer

Sources

Phenotypes