IUGR and IGF abnormalities
Gene: AMMECR1Comment 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
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: LiteratureCreated: 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
Gene: ammecr1 has been classified as Green List (High Evidence).
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
Publications for gene: AMMECR1 were set to
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