AMER1:Ensemblv90

APC membrane recruitment protein 1
OMIM: 300647, ClinGen, DECIPHER

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green AMER1 in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.153	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green AMER1 in Mendeliome Version 1.3802	1 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 0.98	2 reviews	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 Victorian Clinical Genetics Services Phenotypes Osteopathia striata with cranial sclerosis, MIM# 300373 MONDO:0010310
Green AMER1 in Pierre Robin Sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 0.57	1 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 Victorian Clinical Genetics Services Phenotypes Osteopathia striata with cranial sclerosis, MIM# 300373
Green AMER1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.578	0 reviews	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 1.508	1 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 0.365	1 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 UKGTN Radboud University Medical Center, Nijmegen NHS GMS Expert list Victorian Clinical Genetics Services Phenotypes Osteopathia striata with cranial sclerosis, MIM# 300373
Green AMER1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.293	1 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 Victorian Clinical Genetics Services Phenotypes Osteopathia striata with cranial sclerosis, MIM# 300373
Green AMER1 in Fetal anomalies Version 1.482	1 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
Green AMER1 in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green AMER1 in Osteopetrosis Level 2: Skeletal disorders Version 1.0	2 reviews	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 Victorian Clinical Genetics Services Expert Review Green Phenotypes Osteopathia striata with cranial sclerosis, MIM# 300373 MONDO:0010310
Green AMER1 in Pierre Robin Sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 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 Victorian Clinical Genetics Services Expert Review Green Phenotypes Osteopathia striata with cranial sclerosis, MIM# 300373
Green AMER1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green AMER1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 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 list NHS GMS Radboud University Medical Center, Nijmegen UKGTN Expert Review Green Phenotypes Osteopathia striata with cranial sclerosis, MIM# 300373
Green AMER1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 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 Victorian Clinical Genetics Services Expert Review Green Phenotypes Osteopathia striata with cranial sclerosis, MIM# 300373