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Retinal disorders

Gene: TMEM218

Green List (high evidence)

TMEM218 (transmembrane protein 218)
EnsemblGeneIds (GRCh38): ENSG00000150433
EnsemblGeneIds (GRCh37): ENSG00000150433
TMEM218 is in 4 panels

3 reviews

Ivone Leong (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 10:43 a.m. | Last Modified: 8 Mar 2022, 10:43 a.m.
Panel Version: 2.245
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
  • Literature
Phenotypes
  • Joubert syndrome 39, OMIM:619562
Tags
gene-checked
Clinvar variants
Variants in TMEM218
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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

Ivone Leong (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

Ivone Leong (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

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

Ivone Leong (Genomics England Curator)

gene: TMEM218 was added gene: TMEM218 was added to Retinal disorders. Sources: Literature,Expert Review Amber Q4_21_rating, Q4_21_NHS_review tags were added to gene: TMEM218. Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM218 were set to 25161209; 33791682 Phenotypes for gene: TMEM218 were set to Joubert syndrome 39, OMIM:619562