Genomics England
GMS Panels
Panels
Genes and Entities

AMMECR1

Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
OMIM: 300195
PanelMode of inheritanceDetails
1 panel
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990