Severe microcephaly
Gene: ATRIPEnsemblGeneIds (GRCh38): ENSG00000164053
EnsemblGeneIds (GRCh37): ENSG00000164053
OMIM: 606605, Gene2Phenotype
ATRIP is in 5 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11thJuly 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Rebecca Foulger (Genomics England curator)
In a patient, born of consanguineous Gujarati-Indian parents, with Seckel syndrome (OMIM:210600), Ogi et al. (PMID:23144622, 2012) identified a heterozygous c.2278C-T transition in exon 12 of the ATRIP gene, resulting in an arg760-to-ter (R760X) substitution. The unaffected mother also carried the mutation. The paternal allele carried a splicing defect affecting exon 2 that was likely subject to NMD. The patient had severe microcephaly (-10 SD), micrognathia, dental crowding, small earlobes, delayed bone age, and symmetric dwarfism. The clinical and cellular phenotype was similar to that observed in Seckel patients with ATR mutations but the link between the variant and Seckel syndrome has not been established.Created: 13 Dec 2016, 10:43 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Other
- Expert list
- Phenotypes
-
- Microcephalic primordial dwarfism
- Severe microcephaly (-10 SD), micrognathia, dental crowding, small earlobes, delayed bone age, and symmetric dwarfism
- OMIM
- 606605
- Clinvar variants
- Variants in ATRIP
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: ATRIP were set to
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: ATRIP was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ATRIP were changed from MPD; microcephalic primordial dwarfism; severe microcephaly (-10 SD), micrognathia, dental crowding, small earlobes, delayed bone age, and symmetric dwarfism to Microcephalic primordial dwarfism; Severe microcephaly (-10 SD), micrognathia, dental crowding, small earlobes, delayed bone age, and symmetric dwarfism
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ATRIP.
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.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Added New Source
Rebecca Foulger (Genomics England curator)ATRIP was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other
Created
Rebecca Foulger (Genomics England curator)ATRIP was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)ATRIP was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list