Kidneyome_SuperPanel_KidGen_VCGS
Gene: TMEM67EnsemblGeneIds (GRCh38): ENSG00000164953
EnsemblGeneIds (GRCh37): ENSG00000164953
OMIM: 609884, Gene2Phenotype
TMEM67 is in 24 panels
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Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- KidGen_CilioNephronop v38.1.0
- OMIM
- 609884
- Clinvar variants
- Variants in TMEM67
- Penetrance
- None
- Panels with this gene
-
- Retinal disorders
- Ophthalmological ciliopathies
- Tubulointerstitial kidney disease
- Cystic kidney disease
- Renal ciliopathies
- Ocular coloboma
- Intellectual disability
- Familial Neural Tube Defects
- Childhood onset dystonia, chorea or related movement disorder
- Bardet Biedl syndrome
- Unexplained kidney failure in young people
- Ductal plate malformation
- DDG2P
- Rare multisystem ciliopathy disorders
- Cholestasis
- Skeletal dysplasia
- Neurological ciliopathies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Polycystic liver disease
- Limb disorders
- Structural eye disease
- Fetal anomalies
History Filter Activity
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: TMEM67 was added gene: TMEM67 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green Mode of inheritance for gene: TMEM67 was set to Unknown