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  3. TCIRG1
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Hydrocephalus

Gene: TCIRG1

Green List (high evidence)
TCIRG1 (T-cell immune regulator 1, ATPase H+ transporting V0 subunit a3)
EnsemblGeneIds (GRCh38): ENSG00000110719
EnsemblGeneIds (GRCh37): ENSG00000110719
OMIM: 604592, Gene2Phenotype
TCIRG1 is in 7 panels

3 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Created: 14 Mar 2022, 1:52 p.m. | Last Modified: 14 Mar 2022, 1:52 p.m.
Panel Version: 2.127
Created: 14 Mar 2022, 1:52 p.m.
Last Modified: 14 Mar 2022, 1:52 p.m.
Panel version: 2.127

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 14 Oct 2021, 12:25 p.m. | Last Modified: 14 Oct 2021, 12:25 p.m.
Panel Version: 2.117
Created: 14 Oct 2021, 12:25 p.m.
Last Modified: 14 Oct 2021, 12:25 p.m.
Panel version: 2.117

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Hydrocephalus is a reported part of the phenotype.
Sources: Expert list
Created: 8 Aug 2020, 2:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteopetrosis, autosomal recessive 1, MIM# 259700

Created: 8 Aug 2020, 2:52 a.m.

Panel version: 2.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal recessive 1, OMIM:259700
OMIM
604592
Clinvar variants
Variants in TCIRG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_rating was removed from gene: TCIRG1.

14 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to TCIRG1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

14 Oct 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_rating tag was added to gene: TCIRG1.

14 Oct 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: TCIRG1 were set to

14 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tcirg1 has been classified as Amber List (Moderate Evidence).

21 Jun 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TCIRG1 were changed from Osteopetrosis, autosomal recessive 1, MIM# 259700 to Osteopetrosis, autosomal recessive 1, OMIM:259700

8 Aug 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: TCIRG1 was added gene: TCIRG1 was added to Hydrocephalus. Sources: Expert list Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCIRG1 were set to Osteopetrosis, autosomal recessive 1, MIM# 259700 Review for gene: TCIRG1 was set to GREEN