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Mendeliome

Gene: ZFP36L1

Red List (low evidence)

ZFP36L1 (ZFP36 ring finger protein like 1)
EnsemblGeneIds (GRCh38): ENSG00000185650
EnsemblGeneIds (GRCh37): ENSG00000185650
OMIM: 601064, Gene2Phenotype
ZFP36L1 is in 1 panel

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two women reported with bi-allelic variants in this gene and infertility due to arrest at 2-5 cell zygote stage. One was homozygous for an in-frame 9bp deletion and the other had the same deletion compound het with a missense variant. Mouse model supports gene-disease association.
Created: 11 Dec 2022, 3:51 a.m. | Last Modified: 11 Dec 2022, 3:51 a.m.
Panel Version: 1.548

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Oocyte maturation defect 13, MIM# 620154

Publications

Sebastian Lunke (Victorian Clinical Genetics Services)

Red List (low evidence)

Some descriptions of association with cancer and embryonic lethality in knock-pit mice, but no patients with germline disease identified.
Created: 11 Jan 2021, 11:29 p.m. | Last Modified: 11 Jan 2021, 11:29 p.m.
Panel Version: 0.6026

Mode of inheritance
Unknown

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Oocyte maturation defect 13, MIM# 620154
OMIM
601064
Clinvar variants
Variants in ZFP36L1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZFP36L1 were changed from to Oocyte maturation defect 13, MIM# 620154

11 Dec 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZFP36L1 were set to

11 Dec 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ZFP36L1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

16 Jan 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zfp36l1 has been classified as Red List (Low Evidence).

16 Jan 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zfp36l1 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZFP36L1 was added gene: ZFP36L1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ZFP36L1 was set to Unknown