Severe microcephalyGene: RPL10
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 Green
Created: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Associated with phenotype in OMIM, not in G2P. At least 3 variants reported in three unrelated families, all with female carriers showing fully skewed X inactivation of the variant-bearing X chromosome. Supportive functional evidence also presented.
Created: 5 Sep 2017, 10:16 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mental retardation, X-linked, syndromic, 35 300998
Source NHS GMS was added to RPL10.
This gene has been classified as Green List (High Evidence).
RPL10 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Literature
RPL10 was created by sleigh