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  3. AMMECR1
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Red cell disorders

Gene: AMMECR1

Green List (high evidence)
AMMECR1 (Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1)
EnsemblGeneIds (GRCh38): ENSG00000101935
EnsemblGeneIds (GRCh37): ENSG00000101935
OMIM: 300195, Gene2Phenotype
AMMECR1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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
Created: 30 Nov 2021, 2:27 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990

Publications

Created: 30 Nov 2021, 2:27 a.m.

Panel version: 1.3

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990
OMIM
300195
Clinvar variants
Variants in AMMECR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ammecr1 has been classified as Green List (High Evidence).

30 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ammecr1 has been classified as Green List (High Evidence).

30 Nov 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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