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Intellectual disability syndromic and non-syndromic

Gene: IGBP1

Red List (low evidence)

IGBP1 (immunoglobulin binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000089289
EnsemblGeneIds (GRCh37): ENSG00000089289
OMIM: 300139, Gene2Phenotype
IGBP1 is in 5 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

Classified DISPUTED by ClinGen ID and Autism GCEP on 02/02/2021 - https://search.clinicalgenome.org/CCID:005117
Created: 14 May 2024, 6:12 a.m. | Last Modified: 14 May 2024, 6:12 a.m.
Panel Version: 0.5821

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

Phenotypes
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome MONDO:0010333

Publications

  • https://search.clinicalgenome.org/CCID:005117

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported in 2003, no further reports.
Created: 7 Feb 2020, 4:38 a.m. | Last Modified: 7 Feb 2020, 4:38 a.m.
Panel Version: 0.2035

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

Phenotypes
Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472
OMIM
300139
Clinvar variants
Variants in IGBP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IGBP1 were changed from Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472 to Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472

7 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: igbp1 has been classified as Red List (Low Evidence).

7 Feb 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IGBP1 were changed from to Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472

7 Feb 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IGBP1 were set to 14556245

7 Feb 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IGBP1 were set to

7 Feb 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: IGBP1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

7 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: igbp1 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IGBP1 was added gene: IGBP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IGBP1 was set to Unknown