Fetal anomalies
Gene: AMER1

AMER1 (APC membrane recruitment protein 1)
EnsemblGeneIds (GRCh38): ENSG00000184675
EnsemblGeneIds (GRCh37): ENSG00000184675
OMIM: 300647, Gene2Phenotype
AMER1 is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Comment on mode of inheritance: Changed MOI from Monoallelic to X-linked dominant to match other PanelApp panels. Although the Gene2Phenotype inheritance is currently listed as monoallelic, AMER1 is an X-linked gene.
Created: 24 Oct 2019, 10:24 a.m. | Last Modified: 24 Oct 2019, 10:24 a.m.

Panel Version: 0.346

Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a hemizygous variant in AMER1 in a case where the main ultrasound finding was Macrocephaly, cleft lip and palate, congenital heart defect, bifid thumb, CNS malformation, hydrocephalus (Table 1).
Created: 24 May 2019, 10:53 a.m.

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Include because causes an important phenotype. Action taken: Promoted AMER1 gene rating from Amber to Green.
Created: 24 Mar 2019, 9:25 p.m.

Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS.
Created: 12 Feb 2019, 2:32 p.m.

Rating in original PAGE file: 'both DD and IF' for OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
Created: 6 Dec 2018, 10:07 a.m.

Phenotypes
Macrocephaly, cleft lip and palate, congenital heart defect, bifid thumb, CNS malformation, hydrocephalu

Created: 6 Dec 2018, 10:07 a.m.

Panel version: 0.318

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
PAGE DD-Gene2Phenotype

Phenotypes

OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS

OMIM

300647

Clinvar variants

Variants in AMER1

Penetrance

None

Publications

28425981

Panels with this gene