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Prepair 1000+

Gene: RBBP8

Green List (high evidence)

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

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Rare cases of Jawad syndrome have been reported, all associated with p.(Ile603Lysfs*7). Most reports are for Seckel (PMIDs: 21998596, 34270086).

Microcephaly is a feature of both conditions, which overlap phenotypically.
Created: 19 Jan 2025, 11:53 p.m. | Last Modified: 19 Jan 2025, 11:53 p.m.
Panel Version: 1.1235

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Jawad syndrome MIM#251255; Seckel syndrome 2 MIM#606744

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Jawad syndrome MIM#251255
  • Seckel syndrome 2 MIM#606744
OMIM
604124
Clinvar variants
Variants in RBBP8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rbbp8 has been classified as Green List (High Evidence).

20 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RBBP8 were changed from Seckel syndrome 2, 606744 (3) to Jawad syndrome MIM#251255; Seckel syndrome 2 MIM#606744

20 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RBBP8 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Seckel syndrome 2, 606744 (3) for gene: RBBP8

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RBBP8 was added gene: RBBP8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RBBP8 were set to Seckel syndrome 2, 606744 (3)