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Intellectual disability syndromic and non-syndromic

Gene: ELMOD1

Red List (low evidence)

ELMOD1 (ELMO domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000110675
EnsemblGeneIds (GRCh37): ENSG00000110675
OMIM: 615456, Gene2Phenotype
ELMOD1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported.
Sources: Literature
Created: 12 Dec 2019, 2:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder MONDO:0700092,ELMOD1-related

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodevelopmental disorder MONDO:0700092,ELMOD1-related
OMIM
615456
Clinvar variants
Variants in ELMOD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Oct 2023, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ELMOD1 were changed from Intellectual disability to Neurodevelopmental disorder MONDO:0700092,ELMOD1-related

12 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: elmod1 has been classified as Red List (Low Evidence).

12 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ELMOD1 was added gene: ELMOD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature Mode of inheritance for gene: ELMOD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ELMOD1 were set to 31327155 Phenotypes for gene: ELMOD1 were set to Intellectual disability Review for gene: ELMOD1 was set to RED