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Limb disorders

Gene: LZTFL1

No list

LZTFL1 (leucine zipper transcription factor like 1)
EnsemblGeneIds (GRCh38): ENSG00000163818
EnsemblGeneIds (GRCh37): ENSG00000163818
OMIM: 606568, Gene2Phenotype
LZTFL1 is in 12 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Gene made grey as it is on the Rare multisystem ciliopathy disorders panel (v1.79) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. Currently red on cilliopathy panel but this will be reviewed.
Created: 11 Dec 2018, 10:21 a.m.

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM and not in Gen2Phen. At least 3 variants identified in 2 unrelated cases, together with supportive in vitro studies (PMID 22510444)
Created: 7 Nov 2018, 1:26 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 17 615994

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 17 615994
  • Polydactyly
OMIM
606568
Clinvar variants
Variants in LZTFL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 0

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

11 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: lztfl1 has been removed from the panel.

7 Nov 2018, Gel status: 4

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: lztfl1 has been classified as Green List (High Evidence).

7 Nov 2018, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to LZTFL1. Mode of inheritance for gene LZTFL1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bardet-Biedl syndrome 17 615994 for gene: LZTFL1 Publications for gene LZTFL1 were changed from to 22510444; 23692385 Rating Changed from Red List (low evidence) to Green List (high evidence)

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

LZTFL1 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

LZTFL1 was created by Ellen McDonagh