AMER1

APC membrane recruitment protein 1
OMIM: 300647, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green AMER1 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.149

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green AMER1 in Mendeliome


Version 1.2374

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteopathia striata with cranial sclerosis, MIM# 300373

Green AMER1 in Osteopetrosis


Level 2: Skeletal disorders
Version 0.34

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green AMER1 in Pierre Robin Sequence


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.47

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green AMER1 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.540

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green AMER1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Osteopathia striata with cranial sclerosis, OMIM:300373

Green AMER1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.305

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteopathia striata with cranial sclerosis 300373
  • Osteopathia striata with cranial sclerosis 300373

Green AMER1 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.260

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
  • OSCS
  • Cleft palate

Green AMER1 in Fetal anomalies


Version 1.314

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Osteopathia striata with cranial sclerosis, MIM# 300373

Red AMER1 in Wilms Tumour


Level 2: Cancer Predisposition
Version 1.0

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Literature
  • Expert Review
  • Expert list
Phenotypes
  • Wilms tumor, MONDO:0006058
  • Osteopathia striata with cranial sclerosis, MONDO:0010310
  • Osteopathia striata with cranial sclerosis. MIM#300373