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Intellectual disability syndromic and non-syndromic

Gene: MNX1

Red List (low evidence)

MNX1 (motor neuron and pancreas homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000130675
EnsemblGeneIds (GRCh37): ENSG00000130675
OMIM: 142994, Gene2Phenotype
MNX1 is in 7 panels

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

ID not part of this syndrome.
Created: 5 Dec 2019, 1:12 a.m. | Last Modified: 5 Dec 2019, 1:12 a.m.
Panel Version: 0.430

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Currarino syndrome; OMIM #176450

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Currarino syndrome
  • OMIM #176450
OMIM
142994
Clinvar variants
Variants in MNX1
Penetrance
None
Panels with this gene

History Filter Activity

14 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mnx1 has been classified as Red List (Low Evidence).

5 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: mnx1 has been classified as Red List (Low Evidence).

5 Dec 2019, Gel status: 3

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

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from MNX1. Source Expert list was added to MNX1. Mode of inheritance for gene MNX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MNX1 were changed from to Currarino syndrome; OMIM #176450

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MNX1 was added gene: MNX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MNX1 was set to Unknown