Overgrowth

Gene: OFD1

Amber List (moderate evidence)

OFD1 (OFD1, centriole and centriolar satellite protein)
EnsemblGeneIds (GRCh38): ENSG00000046651
EnsemblGeneIds (GRCh37): ENSG00000046651
OMIM: 300170, Gene2Phenotype
OFD1 is in 27 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Variants in this gene cause multiple phenotypes linked to ciliary dysfunction. Two unrelated families reported with SGB-like phenotype.
Created: 17 Jan 2021, 10:56 a.m. | Last Modified: 17 Jan 2021, 10:56 a.m.
Panel Version: 0.92

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209

Publications

History Filter Activity

17 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ofd1 has been classified as Amber List (Moderate Evidence).

17 Jan 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: OFD1 were changed from to Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209

17 Jan 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: OFD1 were set to

17 Jan 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: OFD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ofd1 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: OFD1 was added gene: OFD1 was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: OFD1 was set to Unknown