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Callosome
Gene: HCFC1

HCFC1 (host cell factor C1)
EnsemblGeneIds (GRCh38): ENSG00000172534
EnsemblGeneIds (GRCh37): ENSG00000172534
OMIM: 300019, Gene2Phenotype
HCFC1 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Principal clinical features include ID and epilepsy, CC anomalies are not common/prominent. Can only find experimental evidence, e.g. PMID 31207118.
Created: 28 Sep 2021, 7:37 a.m. | Last Modified: 28 Sep 2021, 7:37 a.m.

Panel Version: 0.320

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

Phenotypes
Mental retardation, X-linked 3 (methylmalonic acidaemia and homocysteinaemia, cblX type) MIM# 309541

Publications

Created: 28 Sep 2021, 7:37 a.m.
Last Modified: 28 Sep 2021, 7:37 a.m.
Panel version: 0.327

Details

Mode of Inheritance

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

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Mental retardation, X-linked 3 (methylmalonic acidaemia and homocysteinaemia, cblX type) MIM# 309541

OMIM

Clinvar variants

Variants in HCFC1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

19 Oct 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HCFC1 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females

28 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hcfc1 has been classified as Red List (Low Evidence).

28 Sep 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HCFC1 were changed from to Mental retardation, X-linked 3 (methylmalonic acidaemia and homocysteinaemia, cblX type) MIM# 309541

28 Sep 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HCFC1 were set to

28 Sep 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HCFC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

28 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hcfc1 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HCFC1 was added gene: HCFC1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HCFC1 was set to Unknown