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Growth failure
Gene: RBBP8

RBBP8 (RB binding protein 8, endonuclease)
EnsemblGeneIds (GRCh38): ENSG00000101773
EnsemblGeneIds (GRCh37): ENSG00000101773
OMIM: 604124, Gene2Phenotype
RBBP8 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families reported with a Seckel syndrome phenotype.

Note bi-allelic variants in this gene are also linked with Jawad syndrome, but similarly low number of families reported, and short stature is not a key feature of this condition.
Created: 20 Aug 2021, 3:30 a.m. | Last Modified: 20 Aug 2021, 3:30 a.m.

Panel Version: 0.248

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Seckel syndrome 2, MIM# 606744

Publications

Created: 20 Aug 2021, 3:30 a.m.
Last Modified: 20 Aug 2021, 3:30 a.m.
Panel version: 0.248

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Genomics England PanelApp

Phenotypes

Seckel syndrome 2, MIM# 606744

OMIM

Clinvar variants

Variants in RBBP8

Penetrance

None

Publications

Panels with this gene

History Filter Activity

20 Aug 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rbbp8 has been classified as Amber List (Moderate Evidence).

20 Aug 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RBBP8 were changed from seckel syndrome but with proportionate head/height impairment, cafe au lair macules to Seckel syndrome 2, MIM# 606744

20 Aug 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RBBP8 were set to 24389050, 21998596

20 Aug 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rbbp8 has been classified as Amber List (Moderate Evidence).

19 Jul 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RBBP8 was added gene: RBBP8 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBBP8 were set to 24389050, 21998596 Phenotypes for gene: RBBP8 were set to seckel syndrome but with proportionate head/height impairment, cafe au lair macules