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Intellectual disability syndromic and non-syndromic

Gene: ZBTB16

Amber List (moderate evidence)

ZBTB16 (zinc finger and BTB domain containing 16)
EnsemblGeneIds (GRCh38): ENSG00000109906
EnsemblGeneIds (GRCh37): ENSG00000109906
OMIM: 176797, Gene2Phenotype
ZBTB16 is in 4 panels

1 review

Chirag Patel (Genetic Health Queensland)

I don't know

1 case only with bilateral absence of thumbs, right-sided aplasia and left-sided hypoplasia of the radius, bilateral ulnar hypoplasia, bifid right hallux, short stature, microcephaly, cryptorchidism, micropenis, and mental retardation. He had a deletion of ZBTB16 on one allele and a missense mutation in ZBTB16 on other allele. Some functional evidence.
Created: 12 Feb 2020, 2:04 a.m. | Last Modified: 12 Feb 2020, 2:04 a.m.
Panel Version: 0.2122

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Skeletal defects, genital hypoplasia, and mental retardation; OMIM #612447

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Skeletal defects, genital hypoplasia, and mental retardation, OMIM #612447
OMIM
176797
Clinvar variants
Variants in ZBTB16
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zbtb16 has been classified as Amber List (Moderate Evidence).

4 Mar 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZBTB16 were changed from to Skeletal defects, genital hypoplasia, and mental retardation, OMIM #612447

4 Mar 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZBTB16 were set to

4 Mar 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ZBTB16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

12 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: zbtb16 has been classified as Amber List (Moderate Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZBTB16 was added gene: ZBTB16 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZBTB16 was set to Unknown