Severe microcephalyGene: LARP7
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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.
This gene has been classified as Green List (High Evidence).
Phenotypes for gene LARP7 were set to Alazami syndrome, 615071 (Microcephaly and short stature); Primordial dwarfism
Mode of inheritance for LARP7 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene LARP7 were set to Alazami syndrome, 615071 (Microcephaly)
LARP7 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert Review
LARP7 was created by richardhywel