Holoprosencephaly

Gene: SMC1A

Amber List (moderate evidence)

SMC1A (structural maintenance of chromosomes 1A)
EnsemblGeneIds (GRCh38): ENSG00000072501
EnsemblGeneIds (GRCh37): ENSG00000072501
OMIM: 300040, Gene2Phenotype
SMC1A is in 16 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by external reviewer. At least 6 unrelated females with holoprosencephaly, mostly commonly semi-lobar type, associated with de novo variants in this gene (PMIDs: 28166369 and 31334757). Likely represents the severe end of the spectrum of SMC1A-related disorders.

Sufficient evidence to rate Green at the next GMS panel update (added 'for-review' tag)
Created: 24 Dec 2020, 3:18 p.m. | Last Modified: 24 Dec 2020, 3:18 p.m.
Panel Version: 2.12

Shane Mckee (Belfast HSC Trust)

Green List (high evidence)

Cohesin complex genes SMC1A, STAG4 etc need added to the panel; loss of function mutations in females (X-linked dominant)
Sources: Other
Created: 7 Jun 2020, 7:57 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
holoprosencephaly; single central incisor

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
Phenotypes
  • Developmental and epileptic encephalopathy 85, with midline brain defects, OMIM:301044
  • Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771
Tags
for-review
OMIM
300040
Clinvar variants
Variants in SMC1A
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

24 Dec 2020, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: SMC1A.

24 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: smc1a has been classified as Amber List (Moderate Evidence).

24 Dec 2020, Gel status: 0

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: SMC1A were set to PMID: 31334757

24 Dec 2020, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SMC1A were changed from holoprosencephaly; single central incisor to Developmental and epileptic encephalopathy 85, with midline brain defects, OMIM:301044; Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771

7 Jun 2020, Gel status: 0

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

Shane Mckee (Belfast HSC Trust)

gene: SMC1A was added gene: SMC1A was added to Holoprosencephaly. Sources: Other Mode of inheritance for gene: SMC1A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: SMC1A were set to PMID: 31334757 Phenotypes for gene: SMC1A were set to holoprosencephaly; single central incisor Penetrance for gene: SMC1A were set to Incomplete Review for gene: SMC1A was set to GREEN