Neurological ciliopathies

Gene: TMEM218

Green List (high evidence)

TMEM218 (transmembrane protein 218)
EnsemblGeneIds (GRCh38): ENSG00000150433
EnsemblGeneIds (GRCh37): ENSG00000150433
TMEM218 is in 5 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
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

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

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

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
JOUBERT SYNDROME 39

Publications

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

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

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tmem218 has been classified as Amber List (Moderate Evidence).

17 Nov 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_NHS_review tag was added to gene: TMEM218.

17 Nov 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_rating tag was added to gene: TMEM218.

17 Nov 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TMEM218 were changed from Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele to Joubert syndrome 39, OMIM:619562

17 Nov 2021, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: TMEM218 were set to 25161209; https://doi.org/10.1016/j.xhgg.2020.100016

9 Dec 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: TMEM218 was added gene: TMEM218 was added to Neurological ciliopathies. Sources: Literature Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM218 were set to 25161209; https://doi.org/10.1016/j.xhgg.2020.100016 Phenotypes for gene: TMEM218 were set to Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele Review for gene: TMEM218 was set to GREEN