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Renal Tubulopathies and related disorders v1.0 AMMECR1 Zornitza Stark Marked gene: AMMECR1 as ready
Renal Tubulopathies and related disorders v1.0 AMMECR1 Zornitza Stark Gene: ammecr1 has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v0.4 AMMECR1 Zornitza Stark gene: AMMECR1 was added
gene: AMMECR1 was added to Renal Tubulopathies and related disorders. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: AMMECR1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: AMMECR1 were set to 28089922; 27811305; 29193635
Phenotypes for gene: AMMECR1 were set to Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990