Holoprosencephaly and septo-optic dysplasia

Gene: SHH

Comment when marking as ready: DISPUTED association with schizencephaly

Created: 24 Apr 2022, 1:27 a.m. | Last Modified: 24 Apr 2022, 1:27 a.m.

Panel Version: 0.13175

Green List (high evidence)

Notes from previous reviews:
Microphthalmia and coloboma reported either in isolation or as part of the HPE spectrum.

Well reported for Holoprosencephaly

Only one individual reported with schizencephaly. Individual had a maternally inherited heterozygous missense variant. Mother was unaffected. The variant has >500 hets and 9 homozygotes in gnomAD, with an East Asian subpop frequency of >3%, although the region is poorly covered in gnomAD (08/2020)

Created: 20 Apr 2022, 3:04 a.m. | Last Modified: 20 Apr 2022, 3:04 a.m.

Panel Version: 0.13096

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Holoprosencephaly 3, MIM#142945; Microphthalmia with coloboma 5, MIM#611638; Schizencephaly, MIM#269160; Single median maxillary central incisor, MIM#147250

Publications

• 21976454
• 12503095
• 22791840
• 19057928
• 19533790

Green List (high evidence)

well reported for Holoprosencephaly

Created: 26 Oct 2020, 2:05 a.m. | Last Modified: 26 Oct 2020, 2:05 a.m.

Panel Version: 0.45

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
1. Holoprosencephaly 3 (MIM#142945), AD; 2. Microphthalmia with coloboma 5 (MIM#611638), AD; 3. Schizencephaly (MIM#269160); 4. Single median maxillary central incisor (MIM#147250) AD

Publications

• 22791840
• 19057928