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Intellectual disability

Gene: LIPT1

No list

LIPT1 (lipoyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000144182
EnsemblGeneIds (GRCh37): ENSG00000144182
OMIM: 610284, Gene2Phenotype
LIPT1 is in 10 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Cognitive development is affected in this metabolic condition.
Sources: Expert list
Created: 8 Feb 2020, 10:59 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lipoyltransferase 1 deficiency, MIM#616299

Publications

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

History Filter Activity

8 Feb 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: LIPT1 was added gene: LIPT1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPT1 were set to 24341803; 24256811; 29681092 Phenotypes for gene: LIPT1 were set to Lipoyltransferase 1 deficiency, MIM#616299 Review for gene: LIPT1 was set to GREEN gene: LIPT1 was marked as current diagnostic