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Microcephaly
Gene: LARP7

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.
Created: 28 Mar 2021, 9:07 a.m. | Last Modified: 28 Mar 2021, 9:07 a.m.

Panel Version: 0.562

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 28 Mar 2021, 9:07 a.m.
Last Modified: 28 Mar 2021, 9:07 a.m.
Panel version: 0.562

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

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

OMIM

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

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LARP7 were changed from to Alazami syndrome, MIM# 615071; Microcephalic primordial dwarfism, Alazami type MONDO:0014031

28 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LARP7 were set to

28 Mar 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LARP7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

28 Mar 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LARP7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LARP7 was added gene: LARP7 was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LARP7 was set to Unknown