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| Red cell disorders v1.4 | AMMECR1 | Zornitza Stark Marked gene: AMMECR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.4 | AMMECR1 | Zornitza Stark Gene: ammecr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.4 | AMMECR1 | Zornitza Stark Classified gene: AMMECR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.4 | AMMECR1 | Zornitza Stark Gene: ammecr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.3 | AMMECR1 |
Zornitza Stark gene: AMMECR1 was added gene: AMMECR1 was added to Red cell disorders. Sources: Expert Review Mode of inheritance for gene: AMMECR1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: AMMECR1 were set to 27811305; 28089922; 29193635 Phenotypes for gene: AMMECR1 were set to Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990 Review for gene: AMMECR1 was set to GREEN Added comment: More than 5 unrelated individuals reported with midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis.Anaemia is sometimes present. Some individuals may show mild early motor or speech delay, but cognition is normal. However, onset is in early childhood. Sources: Expert Review |
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