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  3. LZTR1
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Cerebral Palsy

Gene: LZTR1

Red List (low evidence)
LZTR1 (leucine zipper like transcription regulator 1)
EnsemblGeneIds (GRCh38): ENSG00000099949
EnsemblGeneIds (GRCh37): ENSG00000099949
OMIM: 600574, Gene2Phenotype
LZTR1 is in 14 panels

1 review

Clare van Eyk (University of Adelaide)

Red List (low evidence)

1 individual reported with homozygous pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Created: 19 Jun 2024, 2:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Noonan syndrome 2, MIM#605275

Publications

Created: 19 Jun 2024, 2:49 a.m.

Panel version: 1.291

History Filter Activity

26 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lztr1 has been classified as Red List (Low Evidence).

26 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lztr1 has been classified as Red List (Low Evidence).

19 Jun 2024, Gel status: 0

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

Clare van Eyk (University of Adelaide)

gene: LZTR1 was added gene: LZTR1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: LZTR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LZTR1 were set to PMID: 38693247 Phenotypes for gene: LZTR1 were set to Noonan syndrome 2, MIM#605275 Review for gene: LZTR1 was set to RED