Severe microcephaly
Gene: ATR
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
Reported in at least four families with Seckel syndrome and listed on GeneReview. Probable DD on . good mouse modelCreated: 11 Jan 2017, 2:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Seckel syndrome 1 210600
Publications
Publications for gene: ATR were set to
Phenotypes for gene: ATR were changed from MPD; microcephalic primordial dwarfism; Seckel syndrome 1, 210600; MICROCEPHALIC PRIMORDIAL DWARFISM I to Seckel syndrome 1, OMIM:210600; Microcephalic primordial dwarfism
Source NHS GMS was added to ATR.
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).
This gene has been classified as Green List (High Evidence).
ATR was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Phenotypes for gene ATR were set to MPD; microcephalic primordial dwarfism;Seckel syndrome 1, 210600; MICROCEPHALIC PRIMORDIAL DWARFISM I
ATR was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other Model of inheritance for gene ATR was set to BIALLELIC, autosomal or pseudoautosomal
ATR was created by rfoulger
ATR was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list