Severe microcephaly
Gene: LARP7EnsemblGeneIds (GRCh38): ENSG00000174720
EnsemblGeneIds (GRCh37): ENSG00000174720
OMIM: 612026, Gene2Phenotype
LARP7 is in 4 panels
3 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
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.Created: 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).Created: 7 Feb 2017, 10:17 a.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM and DD-G2P.Created: 7 Feb 2017, 10:15 a.m.
Richard Scott (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
615071
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- 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
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to LARP7.
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.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene LARP7 were set to Alazami syndrome, 615071 (Microcephaly and short stature); Primordial dwarfism
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for LARP7 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene LARP7 were set to Alazami syndrome, 615071 (Microcephaly)
Added New Source
Richard Scott (Genomics England Curator)LARP7 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert Review
Created
Richard Scott (Genomics England Curator)LARP7 was created by richardhywel