Hydrops fetalis
Gene: MID1

MID1 (midline 1)
EnsemblGeneIds (GRCh38): ENSG00000101871
EnsemblGeneIds (GRCh37): ENSG00000101871
OMIM: 300552, Gene2Phenotype
MID1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two reports of hydrops in Opitz G, in the context of complex congenital heart disease, one of them dating back to 1986, not molecularly confirmed.
Sources: Expert list
Created: 13 Aug 2020, 9:13 a.m.

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

Phenotypes
Opitz GBBB syndrome, type I 300000

Publications

Created: 13 Aug 2020, 9:13 a.m.

Panel version: 0.142

Details

Mode of Inheritance

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

Sources

Expert Review Red
Expert list

Phenotypes

Opitz GBBB syndrome, type I 300000

OMIM

300552

Clinvar variants

Variants in MID1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mid1 has been classified as Red List (Low Evidence).

13 Aug 2020, Gel status: 1

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