Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: LYRM7

Amber List (moderate evidence)

LYRM7 (LYR motif containing 7)
EnsemblGeneIds (GRCh38): ENSG00000186687
EnsemblGeneIds (GRCh37): ENSG00000186687
OMIM: 615831, Gene2Phenotype
LYRM7 is in 9 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, 12:41 p.m. | Last Modified: 24 Jul 2020, 12:41 p.m.
Panel Version: 3.197
PMID: 24014394 (2013) - Homozygous variant (c.73G>A) in LYRM7 identified in a patient with normal initial development until the first 20 months of life, when she presented rapid deterioration which included severe psychomotor regression. Functional studies performed in yeast indicate functional impairment.

PMID: 26912632 (2016) - Six distinct homozygous variants in the LYRM7 gene were identified in seven affected individuals (including 2 sibs). Initial cognitive development was delayed in three patients and borderline in one. Continued development was delayed to variable degrees in five individuals, and all were said to have impaired intelligence at the time of the most recent assessment (aged 2.5-16 yrs).

PMID: 28694194 (2017) - Three affected family members with homozygosity for a splice site deletion (c.243_244+2delGAGT) in LYRM7. Development was normal for the first few months of life, however all experienced a rapidly progressive clinical course which included profound impairment of psychomotor and mental functions.
Created: 24 Jul 2020, 11:08 a.m. | Last Modified: 24 Jul 2020, 12:38 p.m.
Panel Version: 3.196

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex III deficiency, nuclear type 8, 615838

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Condition is characterised by progressive deterioration but some individuals described as developmentally delayed from birth.
Sources: Expert list
Created: 9 Feb 2020, 9:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex III deficiency, nuclear type 8, MIM#615838

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

History Filter Activity

24 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: lyrm7 has been classified as Amber List (Moderate Evidence).

24 Jul 2020, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: LYRM7.

9 Feb 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: LYRM7 was added gene: LYRM7 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: LYRM7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LYRM7 were set to Mitochondrial complex III deficiency, nuclear type 8, MIM#615838 Review for gene: LYRM7 was set to GREEN gene: LYRM7 was marked as current diagnostic