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Mendeliome

Gene: ZNF687

Green List (high evidence)

ZNF687 (zinc finger protein 687)
EnsemblGeneIds (GRCh38): ENSG00000143373
EnsemblGeneIds (GRCh37): ENSG00000143373
OMIM: 610568, Gene2Phenotype
ZNF687 is in 1 panel

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Although the founder mutation is common, sufficient number of other variants reported for Green rating.
Created: 29 Jul 2021, 12:35 a.m. | Last Modified: 29 Jul 2021, 12:35 a.m.
Panel Version: 0.8559

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Paget disease of bone 6, MIM#616833

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

*NOTE: all papers thus far are from the same authors

PMID: 26849110 (WES)
- 8x probands with c.2810C>G p.(Pro937Arg) including a large family. Founder mutation
- 1x Ser242Ile
- GoF demonstrated with patient derived lymphoblastic cell lines due to increased nucleus localisation (Pro937Arg only)

PMID: 29493781 (methods unobtainable)
- 8x affecteds with p.(Pro937Arg)
- 2x with p.(Pro665Leu) and p.(Gln784Glu) (morphological and histology done to observe osteoclasts. Specific protein function not assessed)

PMID: 32106343 (only ZNF687 and H3F3A sequenced on tumour DNA)
- 1x R331W (no functional)
- also lists all reported variants to date: total 5 with the non-founder variants having 1 proband each
Created: 28 Jul 2021, 10:37 p.m. | Last Modified: 28 Jul 2021, 10:37 p.m.
Panel Version: 0.8550

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Paget disease of bone 6, MIM#616833

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Paget disease of bone 6, MIM#616833
Tags
founder
OMIM
610568
Clinvar variants
Variants in ZNF687
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: znf687 has been classified as Green List (High Evidence).

29 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZNF687 were changed from to Paget disease of bone 6, MIM#616833

29 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZNF687 were set to

29 Jul 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ZNF687 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Jul 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: ZNF687.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZNF687 was added gene: ZNF687 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ZNF687 was set to Unknown