Severe microcephaly

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 4 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green: 1 Expert green review plus >3 cases of LARP7 mutations causing Alazami syndrome in a range of populations/ethnicities- Iranian, Caucasian, Saudi, Netherlands (OMIM and 2 more cases in PMID;26607181/Hollink et al., 2016). Plus confirmed DD-G2P gene for Alazami syndrome, 615071. Alazami syndrome includes primordial dwarfism and microcephaly.
7 Feb 2017, 10:25 a.m.
Confirmed DD-G2P gene for Alazami syndrome, 615071 (which includes the phenotypes Microcephaly and Short stature/primordial dwarfism).
7 Feb 2017, 10:17 a.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM and DD-G2P.
7 Feb 2017, 10:15 a.m.

Richard Scott (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
615071

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Alazami syndrome, 615071 (Microcephaly and short stature)
  • Primordial dwarfism
OMIM
612026
Clinvar variants
Variants in LARP7
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Mar 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

7 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

7 Feb 2017, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene LARP7 were set to Alazami syndrome, 615071 (Microcephaly and short stature); Primordial dwarfism

7 Feb 2017, Gel status: 0

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

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

7 Feb 2017, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene LARP7 were set to Alazami syndrome, 615071 (Microcephaly)

7 Nov 2016, Gel status: 0

Added New Source

Richard Scott (Genomics England Curator)

LARP7 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert Review

7 Nov 2016, Gel status: 0

Created

Richard Scott (Genomics England Curator)

LARP7 was created by richardhywel