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Microcephaly
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)

Green List (high evidence)

Microcephaly is a feature of both conditions, which overlap phenotypically.
Created: 1 Apr 2021, 6:24 a.m. | Last Modified: 1 Apr 2021, 6:27 a.m.

Panel Version: 0.602

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 1 Apr 2021, 6:24 a.m.
Last Modified: 1 Apr 2021, 6:27 a.m.
Panel version: 0.602

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

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

OMIM

Clinvar variants

Variants in RBBP8

Penetrance

None

Publications

Panels with this gene

History Filter Activity

1 Apr 2021, 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).

1 Apr 2021, Gel status: 3

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

1 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RBBP8 were set to

1 Apr 2021, Gel status: 3

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

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 Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RBBP8 was set to Unknown