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Neurological ciliopathies
Gene: TMEM218

TMEM218 (transmembrane protein 218)
EnsemblGeneIds (GRCh38): ENSG00000150433
EnsemblGeneIds (GRCh37): ENSG00000150433
TMEM218 is in 6 panels

5 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Comment on publications: PMID:35137054 reports three additional cases from two unrelated families and functional evidence including results from zebrafish model.
Created: 20 Feb 2023, 1:57 p.m. | Last Modified: 20 Feb 2023, 1:57 p.m.

Panel Version: 2.7

Created: 20 Feb 2023, 1:57 p.m.
Last Modified: 20 Feb 2023, 1:57 p.m.
Panel version: 2.7

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 4:05 p.m. | Last Modified: 8 Mar 2022, 4:05 p.m.

Panel Version: 1.29

Created: 8 Mar 2022, 4:05 p.m.
Last Modified: 8 Mar 2022, 4:05 p.m.
Panel version: 1.29

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is sufficient evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 17 Nov 2021, 3:18 p.m. | Last Modified: 17 Nov 2021, 3:18 p.m.

Panel Version: 1.24

Created: 17 Nov 2021, 3:18 p.m.
Last Modified: 17 Nov 2021, 3:18 p.m.
Panel version: 1.24

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
JOUBERT SYNDROME 39

Publications

33791682

Created: 21 Oct 2021, 4:20 p.m.
Last Modified: 21 Oct 2021, 4:20 p.m.
Panel version: 1.20

Zornitza Stark (Australian Genomics)

Green List (high evidence)

11 individuals in 6 families with homozygous or compound heterozygous missense and nonsense (1) variants, with a Joubert/Meckel syndrome phenotype. Clinical features included the molar tooth sign (N=2), occipital encephalocele (N=5, all fetuses), retinal dystrophy (N=4, all living individuals), polycystic kidneys (N=2), and polydactyly (N=2), without liver involvement. A null mouse model had nephronophthisis and retinal degeneration.
Sources: Literature
Created: 9 Dec 2020, 7 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele

Publications

25161209
https://doi.org/10.1016/j.xhgg.2020.100016

Created: 9 Dec 2020, 7 a.m.

Panel version: 1.10

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Joubert syndrome 39, OMIM:619562

Tags

gene-checked

Clinvar variants

Variants in TMEM218

Penetrance

None

Publications

Panels with this gene

History Filter Activity

20 Feb 2023, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: TMEM218 were set to 25161209; 33791682; 35137054

20 Feb 2023, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: TMEM218 were set to 25161209; 33791682

8 May 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: TMEM218.

8 Mar 2022, Gel status: 3

Removed Tag, Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q4_21_rating was removed from gene: TMEM218. Tag Q4_21_NHS_review was removed from gene: TMEM218.

8 Mar 2022, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to TMEM218. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

17 Nov 2021, Gel status: 2