Ataxia - paediatric
Gene: TMEM216
TMEM216 (transmembrane protein 216)
EnsemblGeneIds (GRCh38): ENSG00000187049
EnsemblGeneIds (GRCh37): ENSG00000187049
OMIM: 613277, Gene2Phenotype
TMEM216 is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000187049
EnsemblGeneIds (GRCh37): ENSG00000187049
OMIM: 613277, Gene2Phenotype
TMEM216 is in 19 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Ataxia is part of the phenotype.Created: 16 Apr 2020, 7:57 a.m. | Last Modified: 16 Apr 2020, 7:57 a.m.
Panel Version: 0.70
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 2, MIM# 608091
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Joubert syndrome 2, MIM# 608091
- OMIM
- 613277
- Clinvar variants
- Variants in TMEM216
- Penetrance
- None
- Publications
- Panels with this gene
-
- Joubert syndrome and other neurological ciliopathies
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Prepair 1000+
- Cholestasis
- BabyScreen+ newborn screening
- Renal Ciliopathies and Nephronophthisis
- Intellectual disability syndromic and non-syndromic
- Retinitis pigmentosa_Autosomal Recessive/X-linked
- Regression
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Syndromic Retinopathy
- Prepair 500+
- Polymicrogyria and Schizencephaly
- Ataxia - paediatric
History Filter Activity
16 Apr 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tmem216 has been classified as Green List (High Evidence).
16 Apr 2020, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TMEM216 were changed from Joubert syndrome 2 to Joubert syndrome 2, MIM# 608091
16 Apr 2020, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TMEM216 were set to
19 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TMEM216 was added gene: TMEM216 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM216 were set to Joubert syndrome 2