Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: AMER1

Green List (high evidence)

AMER1 (APC membrane recruitment protein 1)
EnsemblGeneIds (GRCh38): ENSG00000184675
EnsemblGeneIds (GRCh37): ENSG00000184675
OMIM: 300647, Gene2Phenotype
AMER1 is in 10 panels

1 review

Deepak Subramanian (Peter MacCallum Cancer Centre)

Green List (high evidence)

Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss, as well as other organ malformations, particularly in affected males (ORPHA:2780). It is associated with X-linked monoallelic loss-of-function (LoF) variants in AMER1/WTX, displaying full penetrance and variable expressivity in both affected heterozygous females and hemizygous males, with the latter exhibiting a broad phenotypic spectrum from mild to severe with foetal/neonatal lethality (Gear and Savarirayan, GeneReviews, 2021). Intellectual disability (ID) has been reported in multiple (>3) individuals with the disorder (see cited publications); in all reviewed cases, other syndromic features of the disease were also present. Around 30% of affected females are estimated to have mild ID, although at least one female with severe ID has been reported (PMID 19079258). Surviving affected males are more likely to have ID, with around 80% estimated to have mild-to-moderate ID (PMID 22043478, 20950377, 22987541, 28497491). No non-syndromic ID cases with LoF variants in AMER1 have been reported to date in the literature.
Created: 5 Dec 2022, 5:14 p.m. | Last Modified: 5 Dec 2022, 5:14 p.m.
Panel Version: 0.5079

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Osteopathia striata with cranial sclerosis, OMIM:300373; Osteopathia striata-cranial sclerosis syndrome, ORPHA:2780; Intellectual disability, HP:0001249

Publications

Details

Mode of Inheritance
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
OMIM
300647
Clinvar variants
Variants in AMER1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: amer1 has been classified as Green List (High Evidence).

6 Dec 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AMER1 were changed from to Osteopathia striata with cranial sclerosis, OMIM:300373

6 Dec 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AMER1 were set to

6 Dec 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: AMER1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AMER1 was added gene: AMER1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: AMER1 was set to Unknown