Severe microcephaly

Gene: ERCC6

Green List (high evidence)

ERCC6 (ERCC excision repair 6, chromatin remodeling factor)
EnsemblGeneIds (GRCh38): ENSG00000225830
EnsemblGeneIds (GRCh37): ENSG00000225830
OMIM: 609413, Gene2Phenotype
ERCC6 is in 23 panels

1 review

emma baple (South West GMC)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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.

30 Jan 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

ERCC6 was created by rfoulger

30 Jan 2017, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

ERCC6 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other, Expert Review Green