Severe microcephaly

Gene: ATR

Green List (high evidence)

ATR (ATR serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000175054
EnsemblGeneIds (GRCh37): ENSG00000175054
OMIM: 601215, Gene2Phenotype
ATR is in 10 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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

Alice Gardham (Genomics England)

Green List (high evidence)

Reported in at least four families with Seckel syndrome and listed on GeneReview. Probable DD on . good mouse model
Created: 11 Jan 2017, 2:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Seckel syndrome 1 210600

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Other
  • Expert list
Phenotypes
  • MPD
  • microcephalic primordial dwarfism
  • Seckel syndrome 1, 210600
  • MICROCEPHALIC PRIMORDIAL DWARFISM I
OMIM
601215
Clinvar variants
Variants in ATR
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ATR.

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.

11 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

11 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

11 Jan 2017, Gel status: 2

Upload gene information

Alice Gardham (Genomics England)

ATR was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

13 Dec 2016, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene ATR were set to MPD; microcephalic primordial dwarfism;Seckel syndrome 1, 210600; MICROCEPHALIC PRIMORDIAL DWARFISM I

13 Dec 2016, Gel status: 0

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

ATR was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other Model of inheritance for gene ATR was set to BIALLELIC, autosomal or pseudoautosomal

13 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

ATR was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list

13 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

ATR was created by rfoulger