Laterality disorders and isomerism
Gene: LZTFL1
LZTFL1 (leucine zipper transcription factor like 1)
EnsemblGeneIds (GRCh38): ENSG00000163818
EnsemblGeneIds (GRCh37): ENSG00000163818
OMIM: 606568, Gene2Phenotype
LZTFL1 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000163818
EnsemblGeneIds (GRCh37): ENSG00000163818
OMIM: 606568, Gene2Phenotype
LZTFL1 is in 16 panels
1 review
Louise Daugherty (Genomics England Curator)
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: LZTFL1; Suggested initial gene rating: Amber; Evidence for inclusion: BBS17 in OMIM; rare reports of dextrocardia; Evidence for exclusion: Laterality abnormalities seen in <2% of BBS patients (CRIBBS), disorder is syndromic and otherwise recognisable; polydactyly/delay more prominent early features.; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 5 Dec 2018, 12:52 p.m.
Details
- Sources
-
- Expert Review Amber
- NHS GMS
- OMIM
- 606568
- Clinvar variants
- Variants in LZTFL1
- Penetrance
- None
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- Laterality disorders and isomerism
- Ophthalmological ciliopathies
- Limb disorders
- Intellectual disability
- COVID-19 research
- Retinal disorders
- Familial tumours of the nervous system
- Skeletal ciliopathies
- Bardet Biedl syndrome
- Structural eye disease
- Fetal anomalies
- Glaucoma (developmental)
- Primary ciliary disorders
History Filter Activity
5 Dec 2018, Gel status: 2
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Amber was added to LZTFL1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
5 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: LZTFL1 was added gene: LZTFL1 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: LZTFL1 was set to