1. Panels
  2. Prepair 1000+
  3. LARP7
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: LARP7

Green List (high evidence)
LARP7 (La ribonucleoprotein domain family member 7)
EnsemblGeneIds (GRCh38): ENSG00000174720
EnsemblGeneIds (GRCh37): ENSG00000174720
OMIM: 612026, Gene2Phenotype
LARP7 is in 8 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Alazami syndrome is an autosomal recessive disorder characterized by severe growth restriction present at birth, severely impaired intellectual development, and distinctive facial features. At least eight unrelated families reported.
Created: 21 Nov 2024, 2:26 a.m. | Last Modified: 21 Nov 2024, 2:26 a.m.
Panel Version: 1.561

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alazami syndrome MIM#615071

Publications

Created: 21 Nov 2024, 2:26 a.m.
Last Modified: 21 Nov 2024, 2:26 a.m.
Panel version: 1.561

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Alazami syndrome MIM#615071
OMIM
612026
Clinvar variants
Variants in LARP7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: larp7 has been classified as Green List (High Evidence).

28 Nov 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: LARP7 were changed from Alazami syndrome, 615071 (3) to Alazami syndrome MIM#615071

28 Nov 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: LARP7 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LARP7 was added gene: LARP7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LARP7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LARP7 were set to Alazami syndrome, 615071 (3)