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Intellectual disability syndromic and non-syndromic

Gene: RBBP5

Green List (high evidence)

RBBP5 (RB binding protein 5, histone lysine methyltransferase complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000117222
EnsemblGeneIds (GRCh37): ENSG00000117222
OMIM: 600697, Gene2Phenotype
RBBP5 is in 2 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

5x Indivs (4x de novo) = 3x PTCs + 2x missense

4/5 dev delay/ID
2/5 short stature (<=-3 SD) + 2/5 <= -2 SD
1/5 microcephaly (<= -3 SD) + 3/5 <= -2 SD
2/5 SNHL
2/5 seizures
3/5 hypotonia
Sources: Literature
Created: 1 Aug 2024, 4:35 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder MONDO:0700092, RBBP5-related

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • neurodevelopmental disorder MONDO:0700092, RBBP5-related
Transcripts
  • neurodevelopmental disorder MONDO:0700092, RBBP5-related
OMIM
600697
Clinvar variants
Variants in RBBP5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Aug 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: RBBP5 were changed from to neurodevelopmental disorder MONDO:0700092, RBBP5-related

1 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: rbbp5 has been classified as Green List (High Evidence).

1 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: rbbp5 has been classified as Green List (High Evidence).

1 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: rbbp5 has been classified as Green List (High Evidence).

1 Aug 2024, Gel status: 1

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: RBBP5 was added gene: RBBP5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: RBBP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RBBP5 were set to 39036895 Review for gene: RBBP5 was set to GREEN gene: RBBP5 was marked as current diagnostic