IUGR and IGF abnormalities

Gene: AMMECR1

Green List (high evidence)

AMMECR1 (Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1)
EnsemblGeneIds (GRCh38): ENSG00000101935
EnsemblGeneIds (GRCh37): ENSG00000101935
OMIM: 300195, Gene2Phenotype
AMMECR1 is in 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by reviewer. This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. This gene has been given a green status based on reviewer provided evidence, which supports a gene-disease association.
Created: 5 Aug 2019, 2:01 p.m. | Last Modified: 5 Aug 2019, 2:01 p.m.
Panel Version: 1.29

Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

Green List (high evidence)

Basel-Vanagaite et al reported a boy with short stature (−3SD), low weight(−4SD), normal OFC (+1SD) and dysmorphic features (PMID: 28089922).

Maternal half-brothers reported by Andreoletti et al. (2017) also had short stature (below the 0.4th centile) and midface hypoplasia.

Short stature was also reported by Moyses-Oliveira et al in patients with loss-of-function AMMECR1 alleles due to nonsense variants, gene deletion and a translocation. (PMID: 29193635)
Created: 28 Jun 2019, 8:45 p.m. | Last Modified: 28 Jun 2019, 8:46 p.m.
Panel Version: 1.26
Sources: Literature
Created: 28 Jun 2019, 8:32 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Short stature; midface hypoplasia; hearing impairment; elliptocytosis; nephrocalcinosis

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Short stature
  • Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990
OMIM
300195
Clinvar variants
Variants in AMMECR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ammecr1 has been classified as Green List (High Evidence).

5 Aug 2019, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: AMMECR1 were changed from Short stature; Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis to Short stature; Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990

5 Aug 2019, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: AMMECR1 were set to

28 Jun 2019, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

gene: AMMECR1 was added gene: AMMECR1 was added to IUGR and IGF abnormalities. Sources: Literature Mode of inheritance for gene: AMMECR1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AMMECR1 were set to Short stature; Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis Review for gene: AMMECR1 was set to GREEN