APP

amyloid beta precursor protein
OMIM: 104760, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green APP in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Alzheimer disease MONDO:0007088

Amber APP in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Alzheimer disease 1, familial, MIM# 104300

Green APP in Incidentalome


Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Alzheimer's Disease (MIM#104300)
Tags
  • adult onset neurodegenerative

Green APP in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green APP in Leukodystrophy


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Other
  • Expert Review Green
  • Expert Review Green
  • Other
Phenotypes
  • early-onset autosomal dominant Alzheimer disease MONDO:0015140

Green APP in Stroke


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, MIM# 605714
  • Cerebral amyloid angiopathy, APP-related

Red APP in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Alzheimer disease 1, familial

Green APP in Incidentalome_PREGEN_DRAFT


Version 1.0

1 review Unknown
Sources
  • NSW Health Pathology
  • Expert Review Green

Red APP in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Alzheimer disease 1, familial

Green APP in Cerebral amyloid angiopathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cerebral amyloid angiopathy, APP-related MONDO:0011583