ALPL

Panel	Reviews	Mode of inheritance	Details
Filter panels 19 panels
Red ALPL 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	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hypophosphatasia, adult, MIM# 146300 Osteomalacia Parkinsonism
Green ALPL in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.223	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Phenotypes Hypophosphatasia, infantile MIM# 241500 Tags treatable
Green ALPL in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.68	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 241500 HYPOPHOSPHATASIA, INFANTILE Tags treatable
Green ALPL in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypophosphatasia, adult 146300 (AD, AR) Hypophosphatasia, childhood 241510 AR Hypophosphatasia, infantile 241500 AR Odontohypophosphatasia 146300 AD, AR Tags treatable
Red ALPL in Neurotransmitter Defects Level 2: Neurology and neurodevelopmental disorders Version 1.7 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hypophosphatasia
Green ALPL in Osteogenesis Imperfecta and Osteoporosis Level 2: Skeletal disorders Version 0.114	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypophosphatasia, adult 146300 (AD, AR) Hypophosphatasia, childhood 241510 AR Hypophosphatasia, infantile 241500 AR Odontohypophosphatasia 146300 AD, AR Tags treatable
Green ALPL in Calcium and Phosphate disorders Level 2: Renal and urinary tract disorders; Endocrine disorders Version 1.24	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypophosphatasia, infantile, OMIM #241500 Hypophosphatasia, childhood, OMIM #241510 Hypophosphatasia, adult, OMIM # 146300 Odontohypophosphatasia, OMIM #146300
Green ALPL 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 NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Hypophosphatasia, adult 146300 (AD, AR) Hypophosphatasia, childhood 241510 AR Hypophosphatasia, infantile 241500 AR Odontohypophosphatasia 146300 AD, AR
Green ALPL in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS NHS GMS Emory Genetics Laboratory Phenotypes Hypophosphatasia, adult 146300 (AD, AR) Hypophosphatasia, childhood 241510 AR Hypophosphatasia, infantile 241500 AR Odontohypophosphatasia 146300 AD, AR Tags treatable
Green ALPL 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 Hypophosphatasia, infantile, 241500 (3)
Green ALPL in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hypophosphatasia
Green ALPL in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.46 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hypophosphatasia disorder of bone metabolism
Green ALPL in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Phenotypes Hypophosphatasia, infantile MIM# 241500
Green ALPL in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hypophosphatasia, infantile, 241500 (3)
Green ALPL in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Hypophosphatasia, childhood OMIM#241510 Hypophosphatasia, infantile OMIM#241500 Tags treatable skeletal
Green ALPL in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 1.14 Component of the following Super Panels: Kidneyome_SuperPanel	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list NHS GMS Victorian Clinical Genetics Services Phenotypes Hypophosphatasia, childhood, OMIM #241510 Odontohypophosphatasia, OMIM #146300 Hypophosphatasia, adult, OMIM # 146300 Hypophosphatasia, infantile, OMIM #241500
Green ALPL in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes disorder of bone metabolism Hypophosphatasia
Green ALPL in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hypophosphatasia, infantile, 241500 (3)
Red ALPL in Vitamin metabolism disorders Level 2: Metabolic disorders Version 1.6 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert review Green Phenotypes disorder of bone metabolism Hypophosphatasia Disorders of pyridoxine metabolism

ALPL

19 panels

Red ALPL in Early-onset Parkinson disease

Sources

Phenotypes

Green ALPL in Skeletal Dysplasia_Fetal

Sources

Phenotypes

Tags

Green ALPL in Craniosynostosis

Sources

Phenotypes

Tags

Green ALPL in Mendeliome

Sources

Phenotypes

Tags

Red ALPL in Neurotransmitter Defects

Sources

Phenotypes

Green ALPL in Osteogenesis Imperfecta and Osteoporosis

Sources

Phenotypes

Tags

Green ALPL in Calcium and Phosphate disorders

Sources

Phenotypes

Green ALPL in Genetic Epilepsy

Sources

Phenotypes

Green ALPL in Skeletal dysplasia

Sources

Phenotypes

Tags

Green ALPL in Mackenzie's Mission_Reproductive Carrier Screening

Sources

Phenotypes

Green ALPL in Additional findings_Paediatric

Sources

Phenotypes

Green ALPL in Miscellaneous Metabolic Disorders

Sources

Phenotypes

Green ALPL in Fetal anomalies

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Phenotypes

Green ALPL in Prepair 1000+

Sources

Phenotypes

Green ALPL in BabyScreen+ newborn screening

Sources

Phenotypes

Tags

Green ALPL in Renal Tubulopathies and related disorders

Sources

Phenotypes

Green ALPL in Transplant Co-Morbidity Superpanel

Sources

Phenotypes

Green ALPL in Prepair 500+

Sources

Phenotypes

Red ALPL in Vitamin metabolism disorders

Sources

Phenotypes