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 1.53

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 1.905
Latest signed off version: v1.92 (21 Aug 2020)

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 1.127

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