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  3. RBBP8
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Callosome

Gene: RBBP8

Red List (low evidence)
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)

Red List (low evidence)

Individuals from 3 families reported in the literature with bi-allelic variants in this gene: clinical diagnosis was Jawad syndrome in one, and Seckel syndrome in 2. Microcephaly is a feature, corpus callosum abnormalities not specifically highlighted.
Created: 31 Jan 2020, 11:08 a.m. | Last Modified: 31 Jan 2020, 11:08 a.m.
Panel Version: 0.64

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 31 Jan 2020, 11:08 a.m.
Last Modified: 31 Jan 2020, 11:08 a.m.
Panel version: 0.64

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
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

31 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rbbp8 has been classified as Red List (Low Evidence).

31 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Jan 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RBBP8 were set to

31 Jan 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RBBP8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

31 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rbbp8 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: RBBP8 was added gene: RBBP8 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RBBP8 was set to Unknown