1. Panels
  2. Microcephalic Primordial Dwarfism and Slender bone dysplasias
  3. LARP7
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Microcephalic Primordial Dwarfism and Slender bone dysplasias

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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. Five unrelated families reported.
Sources: Expert Review
Created: 28 Mar 2021, 9:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alazami syndrome, MIM# 615071; Microcephalic primordial dwarfism, Alazami type MONDO:0014031

Publications

Created: 28 Mar 2021, 9:11 a.m.

Panel version: 0.6

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Alazami syndrome, MIM# 615071
  • Microcephalic primordial dwarfism, Alazami type MONDO:0014031
OMIM
612026
Clinvar variants
Variants in LARP7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Mar 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: LARP7 was added gene: LARP7 was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. Sources: Expert Review Mode of inheritance for gene: LARP7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LARP7 were set to 22865833; 21937992; 30006060; 33569879 Phenotypes for gene: LARP7 were set to Alazami syndrome, MIM# 615071; Microcephalic primordial dwarfism, Alazami type MONDO:0014031 Review for gene: LARP7 was set to GREEN