1. Panels
  2. Renal Tubulopathies and related disorders
  3. AMMECR1
STRs in panel
Prev Next
Regions in panel
Prev Next

Renal Tubulopathies and related 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. Onset is in early childhood.
Sources: Expert Review
Created: 30 Nov 2021, 2:01 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, 2:01 a.m.

Panel version: Imported from Nephrolithiasis and Nephrocalcinosis panel version 0.57

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert Review
  • 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

2 Dec 2022, 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).

1 Dec 2022, Gel status: 3

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 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