Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: LZTFL1

Green List (high evidence)

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

1 review

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

Green List (high evidence)

Bardet-Biedl syndrome-17 (BBS17) is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, cognitive impairment, obesity, renal dysfunction, and hypogenitalism. Polydactyly, most often postaxial, is also a primary feature of BBS; in BBS17, mesoaxial polydactyly, with fused or Y-shaped metacarpals, is a distinct manifestation.

Six individuals from four unrelated families have been reported

HGNC approved symbol/name: LZTFL1
Is the phenotype(s) severe and onset <18yo? Y
Created: 12 Dec 2024, 1:07 a.m. | Last Modified: 12 Dec 2024, 1:07 a.m.
Panel Version: 1.633

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 17 MIM#615994; MONDO:0014445

Publications

History Filter Activity

13 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LZTFL1 were changed from Bardet-Biedl syndrome 17, 615994 (3) to Bardet-Biedl syndrome 17 MIM#615994; MONDO:0014445

13 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LZTFL1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Bardet-Biedl syndrome 17, 615994 (3) for gene: LZTFL1

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LZTFL1 was added gene: LZTFL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17, 615994 (3)