AMMECR1

Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
OMIM: 300195, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green AMMECR1 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.65

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Short stature
  • Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990
Green AMMECR1 in Fetal anomalies


Version 3.164
Latest signed off version: v3.0 (22 Mar 2023)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990
Green AMMECR1 in Severe Paediatric Disorders


Version 1.184

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990