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  2. Anophthalmia_Microphthalmia_Coloboma
  3. RHOA
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Anophthalmia_Microphthalmia_Coloboma

Gene: RHOA

Green List (high evidence)
RHOA (ras homolog family member A)
EnsemblGeneIds (GRCh38): ENSG00000067560
EnsemblGeneIds (GRCh37): ENSG00000067560
OMIM: 165390, Gene2Phenotype
RHOA is in 3 panels

1 review

Sue White (Victorian Clinical Genetics Services)

Green List (high evidence)

mosaic heterozygous variants causing dysmorphism, brain MRI changes, normal cognition, eye and acral anomalies
Sources: Literature
Created: 7 Jan 2020, 2:42 a.m.

Mode of inheritance
Other

Phenotypes
normal cognition; leukoencephalopathy; micro-ophthalmia; strabismus; linear hypopigmentation; malar hypoplasia; downslanting palpebral fissures; microstomia

Publications

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

Created: 7 Jan 2020, 2:42 a.m.

Panel version: 0.32

Details

Mode of Inheritance
Other
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • normal cognition
  • leukoencephalopathy
  • micro-ophthalmia
  • strabismus
  • linear hypopigmentation
  • malar hypoplasia
  • downslanting palpebral fissures
  • microstomia
Tags
somatic
OMIM
165390
Clinvar variants
Variants in RHOA
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

7 Jan 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag somatic tag was added to gene: RHOA.

7 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Jan 2020, Gel status: 1

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

Sue White (Victorian Clinical Genetics Services)

gene: RHOA was added gene: RHOA was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Literature Mode of inheritance for gene: RHOA was set to Other Publications for gene: RHOA were set to 31570889 Phenotypes for gene: RHOA were set to normal cognition; leukoencephalopathy; micro-ophthalmia; strabismus; linear hypopigmentation; malar hypoplasia; downslanting palpebral fissures; microstomia Penetrance for gene: RHOA were set to Complete Review for gene: RHOA was set to GREEN gene: RHOA was marked as current diagnostic