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Laterality disorders and isomerism
Gene: ZMYND10

ZMYND10 (zinc finger MYND-type containing 10)
EnsemblGeneIds (GRCh38): ENSG00000004838
EnsemblGeneIds (GRCh37): ENSG00000004838
OMIM: 607070, Gene2Phenotype
ZMYND10 is in 6 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: ZMYND10; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PCD or Visceral heterotaxy gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 12:52 p.m.

Created: 5 Dec 2018, 12:52 p.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Ciliary dyskinesia, primary, 22, 615444

OMIM

Clinvar variants

Variants in ZMYND10

Penetrance

None

Panels with this gene

History Filter Activity

27 Nov 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ZMYND10 were changed from Congenital heart defects, nonsyndromic, 1, X-linked; Heterotaxy, visceral, 1, X-linked; VACTERL association, X-linked to Ciliary dyskinesia, primary, 22, 615444

27 Nov 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: ZMYND10 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to BIALLELIC, autosomal or pseudoautosomal

27 Nov 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ZMYND10 were changed from to Congenital heart defects, nonsyndromic, 1, X-linked; Heterotaxy, visceral, 1, X-linked; VACTERL association, X-linked

27 Nov 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: ZMYND10 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females

5 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to ZMYND10. Rating Changed from Red List (low evidence) to Green List (high evidence)

5 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ZMYND10 was added gene: ZMYND10 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: ZMYND10 was set to