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Intellectual disability

Gene: LZTFL1

Amber List (moderate evidence)
LZTFL1 (leucine zipper transcription factor like 1)
EnsemblGeneIds (GRCh38): ENSG00000163818
EnsemblGeneIds (GRCh37): ENSG00000163818
OMIM: 606568, Gene2Phenotype
LZTFL1 is in 16 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 24 Jul 2020, 12:46 p.m. | Last Modified: 24 Jul 2020, 12:46 p.m.
Panel Version: 3.198
Associated with phenotype in OMIM and probable in G2P.

Biallelic variants in the LZTFL1 gene are an established cause of BBS17, with supporting functional data. Cognitive impairment is a feature of the BBS17 associated phenotype in all cases reported in literature to date:

PMID: 22510444 (2012) - cognitive impairment reported in a 10-year-old BBS17 patient, harbouring a homozygous 5 bp deletion leading to a premature stop codon (c.402-406del, p.Pro136ThrfsX5) in LZTFL1.

PMID: 23692385 (2014) - cognitive impairment reported in a pair of dizygotic twins with two compound heterozygous LZTFL1 variants ([c.260T>C, p.Leu87Pro];[c.778G>T, p.Glu260*]). One twin was said to have learning difficulties since childhood. She attended a specialised school, and at the age of 36, her educational level was equivalent to the elementary school level. The second twin was also reported to have scholastic difficulties and slowness with an educational level equivalent to primary school.
Created: 24 Jul 2020, 11:08 a.m. | Last Modified: 24 Jul 2020, 12:44 p.m.
Panel Version: 3.197

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 17, 615994

Publications

Created: 24 Jul 2020, 11:08 a.m.
Last Modified: 24 Jul 2020, 12:44 p.m.
Panel version: 3.183

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Two unrelated families and functional evidence.
Sources: Expert list
Created: 9 Feb 2020, 9:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 17, MIM#615994

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 9 Feb 2020, 9:10 a.m.

Panel version: 3.0

History Filter Activity

24 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: lztfl1 has been classified as Amber List (Moderate Evidence).

9 Feb 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: LZTFL1 was added gene: LZTFL1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LZTFL1 were set to 22510444; 23692385; 27312011 Phenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17, MIM#615994 Review for gene: LZTFL1 was set to GREEN gene: LZTFL1 was marked as current diagnostic