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  3. ACTRT1
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Multiple monogenic benign skin tumours

Gene: ACTRT1

No list
ACTRT1 (actin related protein T1)
EnsemblGeneIds (GRCh38): ENSG00000123165
EnsemblGeneIds (GRCh37): ENSG00000123165
OMIM: 300487, Gene2Phenotype
ACTRT1 is in 2 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.
Created: 19 Feb 2019, 7:43 p.m.
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: ACTRT1; Suggested initial gene rating: Green; Evidence for inclusion: PMID:28869610; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 29 Jan 2019, 10:38 a.m.
Created: 29 Jan 2019, 10:38 a.m.

Panel version: 0.7

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Bazex syndrome
Tags
curated_removed
OMIM
300487
Clinvar variants
Variants in ACTRT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: ACTRT1.

19 Feb 2019, Gel status: 0

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Removed was added to ACTRT1. Rating Changed from Green List (high evidence) to No List (delete)

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to ACTRT1.

29 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: ACTRT1 was added gene: ACTRT1 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ACTRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTRT1 were set to 28869610 Phenotypes for gene: ACTRT1 were set to Bazex syndrome